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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs1483503419

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:30892320 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
C>A / C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.000004 (1/223356, GnomAD_exome)
G=0.000007 (1/140276, GnomAD)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
DDR1 : Missense Variant
Publications
0 citations
Genomic View
See rs on genome
Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
gnomAD - Exomes Global Study-wide 223356 C=0.999996 G=0.000004
gnomAD - Exomes European Sub 119026 C=0.999992 G=0.000008
gnomAD - Exomes Asian Sub 42948 C=1.00000 G=0.00000
gnomAD - Exomes American Sub 32454 C=1.00000 G=0.00000
gnomAD - Exomes African Sub 16060 C=1.00000 G=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 7376 C=1.0000 G=0.0000
gnomAD - Exomes Other Sub 5492 C=1.0000 G=0.0000
gnomAD - Genomes Global Study-wide 140276 C=0.999993 G=0.000007
gnomAD - Genomes European Sub 75938 C=0.99999 G=0.00001
gnomAD - Genomes African Sub 42056 C=1.00000 G=0.00000
gnomAD - Genomes American Sub 13670 C=1.00000 G=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 C=1.0000 G=0.0000
gnomAD - Genomes East Asian Sub 3134 C=1.0000 G=0.0000
gnomAD - Genomes Other Sub 2154 C=1.0000 G=0.0000
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 6 NC_000006.12:g.30892320C>A
GRCh38.p14 chr 6 NC_000006.12:g.30892320C>G
GRCh38.p14 chr 6 NC_000006.12:g.30892320C>T
GRCh37.p13 chr 6 NC_000006.11:g.30860097C>A
GRCh37.p13 chr 6 NC_000006.11:g.30860097C>G
GRCh37.p13 chr 6 NC_000006.11:g.30860097C>T
DDR1 RefSeqGene NG_029066.1:g.13237C>A
DDR1 RefSeqGene NG_029066.1:g.13237C>G
DDR1 RefSeqGene NG_029066.1:g.13237C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.2372091C>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.2372091C>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.2372091C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.2372197C>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.2372197C>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.2372197C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.2147490C>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.2147490C>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.2147490C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.2153086C>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.2153086C>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.2153086C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.2202558C>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.2202558C>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.2202558C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.2208178C>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.2208178C>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.2208178C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.2148630C>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.2148630C>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.2148630C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.2154215C>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.2154215C>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.2154215C>T
Gene: DDR1, discoidin domain receptor tyrosine kinase 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
DDR1 transcript variant 4 NM_001202521.1:c.877C>A L [CTG] > M [ATG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 4 precursor NP_001189450.1:p.Leu293Met L (Leu) > M (Met) Missense Variant
DDR1 transcript variant 4 NM_001202521.1:c.877C>G L [CTG] > V [GTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 4 precursor NP_001189450.1:p.Leu293Val L (Leu) > V (Val) Missense Variant
DDR1 transcript variant 4 NM_001202521.1:c.877C>T L [CTG] > L [TTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 4 precursor NP_001189450.1:p.Leu293= L (Leu) > L (Leu) Synonymous Variant
DDR1 transcript variant 5 NM_001202522.1:c.877C>A L [CTG] > M [ATG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 5 precursor NP_001189451.1:p.Leu293Met L (Leu) > M (Met) Missense Variant
DDR1 transcript variant 5 NM_001202522.1:c.877C>G L [CTG] > V [GTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 5 precursor NP_001189451.1:p.Leu293Val L (Leu) > V (Val) Missense Variant
DDR1 transcript variant 5 NM_001202522.1:c.877C>T L [CTG] > L [TTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 5 precursor NP_001189451.1:p.Leu293= L (Leu) > L (Leu) Synonymous Variant
DDR1 transcript variant 7 NM_001297652.2:c.877C>A L [CTG] > M [ATG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001284581.1:p.Leu293Met L (Leu) > M (Met) Missense Variant
DDR1 transcript variant 7 NM_001297652.2:c.877C>G L [CTG] > V [GTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001284581.1:p.Leu293Val L (Leu) > V (Val) Missense Variant
DDR1 transcript variant 7 NM_001297652.2:c.877C>T L [CTG] > L [TTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001284581.1:p.Leu293= L (Leu) > L (Leu) Synonymous Variant
DDR1 transcript variant 2 NM_013993.3:c.877C>A L [CTG] > M [ATG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 2 precursor NP_054699.2:p.Leu293Met L (Leu) > M (Met) Missense Variant
DDR1 transcript variant 2 NM_013993.3:c.877C>G L [CTG] > V [GTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 2 precursor NP_054699.2:p.Leu293Val L (Leu) > V (Val) Missense Variant
DDR1 transcript variant 2 NM_013993.3:c.877C>T L [CTG] > L [TTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 2 precursor NP_054699.2:p.Leu293= L (Leu) > L (Leu) Synonymous Variant
DDR1 transcript variant 1 NM_001954.5:c.877C>A L [CTG] > M [ATG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001945.3:p.Leu293Met L (Leu) > M (Met) Missense Variant
DDR1 transcript variant 1 NM_001954.5:c.877C>G L [CTG] > V [GTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001945.3:p.Leu293Val L (Leu) > V (Val) Missense Variant
DDR1 transcript variant 1 NM_001954.5:c.877C>T L [CTG] > L [TTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001945.3:p.Leu293= L (Leu) > L (Leu) Synonymous Variant
DDR1 transcript variant 8 NM_001297653.2:c.877C>A L [CTG] > M [ATG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001284582.1:p.Leu293Met L (Leu) > M (Met) Missense Variant
DDR1 transcript variant 8 NM_001297653.2:c.877C>G L [CTG] > V [GTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001284582.1:p.Leu293Val L (Leu) > V (Val) Missense Variant
DDR1 transcript variant 8 NM_001297653.2:c.877C>T L [CTG] > L [TTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001284582.1:p.Leu293= L (Leu) > L (Leu) Synonymous Variant
DDR1 transcript variant 9 NM_001297654.2:c.877C>A L [CTG] > M [ATG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 2 precursor NP_001284583.1:p.Leu293Met L (Leu) > M (Met) Missense Variant
DDR1 transcript variant 9 NM_001297654.2:c.877C>G L [CTG] > V [GTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 2 precursor NP_001284583.1:p.Leu293Val L (Leu) > V (Val) Missense Variant
DDR1 transcript variant 9 NM_001297654.2:c.877C>T L [CTG] > L [TTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 2 precursor NP_001284583.1:p.Leu293= L (Leu) > L (Leu) Synonymous Variant
DDR1 transcript variant 3 NM_013994.3:c.877C>A L [CTG] > M [ATG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 3 precursor NP_054700.2:p.Leu293Met L (Leu) > M (Met) Missense Variant
DDR1 transcript variant 3 NM_013994.3:c.877C>G L [CTG] > V [GTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 3 precursor NP_054700.2:p.Leu293Val L (Leu) > V (Val) Missense Variant
DDR1 transcript variant 3 NM_013994.3:c.877C>T L [CTG] > L [TTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 3 precursor NP_054700.2:p.Leu293= L (Leu) > L (Leu) Synonymous Variant
DDR1 transcript variant 17 NM_001387899.1:c.877C>A L [CTG] > M [ATG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 2 precursor NP_001374828.1:p.Leu293Met L (Leu) > M (Met) Missense Variant
DDR1 transcript variant 17 NM_001387899.1:c.877C>G L [CTG] > V [GTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 2 precursor NP_001374828.1:p.Leu293Val L (Leu) > V (Val) Missense Variant
DDR1 transcript variant 17 NM_001387899.1:c.877C>T L [CTG] > L [TTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 2 precursor NP_001374828.1:p.Leu293= L (Leu) > L (Leu) Synonymous Variant
DDR1 transcript variant 31 NM_001387913.1:c.877C>A L [CTG] > M [ATG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001374842.1:p.Leu293Met L (Leu) > M (Met) Missense Variant
DDR1 transcript variant 31 NM_001387913.1:c.877C>G L [CTG] > V [GTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001374842.1:p.Leu293Val L (Leu) > V (Val) Missense Variant
DDR1 transcript variant 31 NM_001387913.1:c.877C>T L [CTG] > L [TTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001374842.1:p.Leu293= L (Leu) > L (Leu) Synonymous Variant
DDR1 transcript variant 34 NM_001387916.1:c.877C>A L [CTG] > M [ATG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001374845.1:p.Leu293Met L (Leu) > M (Met) Missense Variant
DDR1 transcript variant 34 NM_001387916.1:c.877C>G L [CTG] > V [GTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001374845.1:p.Leu293Val L (Leu) > V (Val) Missense Variant
DDR1 transcript variant 34 NM_001387916.1:c.877C>T L [CTG] > L [TTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001374845.1:p.Leu293= L (Leu) > L (Leu) Synonymous Variant
DDR1 transcript variant 28 NM_001387910.1:c.877C>A L [CTG] > M [ATG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001374839.1:p.Leu293Met L (Leu) > M (Met) Missense Variant
DDR1 transcript variant 28 NM_001387910.1:c.877C>G L [CTG] > V [GTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001374839.1:p.Leu293Val L (Leu) > V (Val) Missense Variant
DDR1 transcript variant 28 NM_001387910.1:c.877C>T L [CTG] > L [TTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001374839.1:p.Leu293= L (Leu) > L (Leu) Synonymous Variant
DDR1 transcript variant 11 NM_001387893.1:c.877C>A L [CTG] > M [ATG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 2 precursor NP_001374822.1:p.Leu293Met L (Leu) > M (Met) Missense Variant
DDR1 transcript variant 11 NM_001387893.1:c.877C>G L [CTG] > V [GTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 2 precursor NP_001374822.1:p.Leu293Val L (Leu) > V (Val) Missense Variant
DDR1 transcript variant 11 NM_001387893.1:c.877C>T L [CTG] > L [TTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 2 precursor NP_001374822.1:p.Leu293= L (Leu) > L (Leu) Synonymous Variant
DDR1 transcript variant 27 NM_001387909.1:c.877C>A L [CTG] > M [ATG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001374838.1:p.Leu293Met L (Leu) > M (Met) Missense Variant
DDR1 transcript variant 27 NM_001387909.1:c.877C>G L [CTG] > V [GTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001374838.1:p.Leu293Val L (Leu) > V (Val) Missense Variant
DDR1 transcript variant 27 NM_001387909.1:c.877C>T L [CTG] > L [TTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001374838.1:p.Leu293= L (Leu) > L (Leu) Synonymous Variant
DDR1 transcript variant 12 NM_001387894.1:c.877C>A L [CTG] > M [ATG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 2 precursor NP_001374823.1:p.Leu293Met L (Leu) > M (Met) Missense Variant
DDR1 transcript variant 12 NM_001387894.1:c.877C>G L [CTG] > V [GTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 2 precursor NP_001374823.1:p.Leu293Val L (Leu) > V (Val) Missense Variant
DDR1 transcript variant 12 NM_001387894.1:c.877C>T L [CTG] > L [TTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 2 precursor NP_001374823.1:p.Leu293= L (Leu) > L (Leu) Synonymous Variant
DDR1 transcript variant 22 NM_001387904.1:c.877C>A L [CTG] > M [ATG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 2 precursor NP_001374833.1:p.Leu293Met L (Leu) > M (Met) Missense Variant
DDR1 transcript variant 22 NM_001387904.1:c.877C>G L [CTG] > V [GTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 2 precursor NP_001374833.1:p.Leu293Val L (Leu) > V (Val) Missense Variant
DDR1 transcript variant 22 NM_001387904.1:c.877C>T L [CTG] > L [TTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 2 precursor NP_001374833.1:p.Leu293= L (Leu) > L (Leu) Synonymous Variant
DDR1 transcript variant 36 NM_001387918.1:c.877C>A L [CTG] > M [ATG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001374847.1:p.Leu293Met L (Leu) > M (Met) Missense Variant
DDR1 transcript variant 36 NM_001387918.1:c.877C>G L [CTG] > V [GTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001374847.1:p.Leu293Val L (Leu) > V (Val) Missense Variant
DDR1 transcript variant 36 NM_001387918.1:c.877C>T L [CTG] > L [TTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001374847.1:p.Leu293= L (Leu) > L (Leu) Synonymous Variant
DDR1 transcript variant 18 NM_001387900.1:c.877C>A L [CTG] > M [ATG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 2 precursor NP_001374829.1:p.Leu293Met L (Leu) > M (Met) Missense Variant
DDR1 transcript variant 18 NM_001387900.1:c.877C>G L [CTG] > V [GTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 2 precursor NP_001374829.1:p.Leu293Val L (Leu) > V (Val) Missense Variant
DDR1 transcript variant 18 NM_001387900.1:c.877C>T L [CTG] > L [TTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 2 precursor NP_001374829.1:p.Leu293= L (Leu) > L (Leu) Synonymous Variant
DDR1 transcript variant 35 NM_001387917.1:c.877C>A L [CTG] > M [ATG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001374846.1:p.Leu293Met L (Leu) > M (Met) Missense Variant
DDR1 transcript variant 35 NM_001387917.1:c.877C>G L [CTG] > V [GTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001374846.1:p.Leu293Val L (Leu) > V (Val) Missense Variant
DDR1 transcript variant 35 NM_001387917.1:c.877C>T L [CTG] > L [TTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001374846.1:p.Leu293= L (Leu) > L (Leu) Synonymous Variant
DDR1 transcript variant 25 NM_001387907.1:c.877C>A L [CTG] > M [ATG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 7 precursor NP_001374836.1:p.Leu293Met L (Leu) > M (Met) Missense Variant
DDR1 transcript variant 25 NM_001387907.1:c.877C>G L [CTG] > V [GTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 7 precursor NP_001374836.1:p.Leu293Val L (Leu) > V (Val) Missense Variant
DDR1 transcript variant 25 NM_001387907.1:c.877C>T L [CTG] > L [TTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 7 precursor NP_001374836.1:p.Leu293= L (Leu) > L (Leu) Synonymous Variant
DDR1 transcript variant 14 NM_001387896.1:c.877C>A L [CTG] > M [ATG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 2 precursor NP_001374825.1:p.Leu293Met L (Leu) > M (Met) Missense Variant
DDR1 transcript variant 14 NM_001387896.1:c.877C>G L [CTG] > V [GTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 2 precursor NP_001374825.1:p.Leu293Val L (Leu) > V (Val) Missense Variant
DDR1 transcript variant 14 NM_001387896.1:c.877C>T L [CTG] > L [TTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 2 precursor NP_001374825.1:p.Leu293= L (Leu) > L (Leu) Synonymous Variant
DDR1 transcript variant 30 NM_001387912.1:c.877C>A L [CTG] > M [ATG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001374841.1:p.Leu293Met L (Leu) > M (Met) Missense Variant
DDR1 transcript variant 30 NM_001387912.1:c.877C>G L [CTG] > V [GTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001374841.1:p.Leu293Val L (Leu) > V (Val) Missense Variant
DDR1 transcript variant 30 NM_001387912.1:c.877C>T L [CTG] > L [TTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001374841.1:p.Leu293= L (Leu) > L (Leu) Synonymous Variant
DDR1 transcript variant 33 NM_001387915.1:c.877C>A L [CTG] > M [ATG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001374844.1:p.Leu293Met L (Leu) > M (Met) Missense Variant
DDR1 transcript variant 33 NM_001387915.1:c.877C>G L [CTG] > V [GTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001374844.1:p.Leu293Val L (Leu) > V (Val) Missense Variant
DDR1 transcript variant 33 NM_001387915.1:c.877C>T L [CTG] > L [TTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001374844.1:p.Leu293= L (Leu) > L (Leu) Synonymous Variant
DDR1 transcript variant 15 NM_001387897.1:c.877C>A L [CTG] > M [ATG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 2 precursor NP_001374826.1:p.Leu293Met L (Leu) > M (Met) Missense Variant
DDR1 transcript variant 15 NM_001387897.1:c.877C>G L [CTG] > V [GTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 2 precursor NP_001374826.1:p.Leu293Val L (Leu) > V (Val) Missense Variant
DDR1 transcript variant 15 NM_001387897.1:c.877C>T L [CTG] > L [TTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 2 precursor NP_001374826.1:p.Leu293= L (Leu) > L (Leu) Synonymous Variant
DDR1 transcript variant 16 NM_001387898.1:c.877C>A L [CTG] > M [ATG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 2 precursor NP_001374827.1:p.Leu293Met L (Leu) > M (Met) Missense Variant
DDR1 transcript variant 16 NM_001387898.1:c.877C>G L [CTG] > V [GTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 2 precursor NP_001374827.1:p.Leu293Val L (Leu) > V (Val) Missense Variant
DDR1 transcript variant 16 NM_001387898.1:c.877C>T L [CTG] > L [TTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 2 precursor NP_001374827.1:p.Leu293= L (Leu) > L (Leu) Synonymous Variant
DDR1 transcript variant 29 NM_001387911.1:c.877C>A L [CTG] > M [ATG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001374840.1:p.Leu293Met L (Leu) > M (Met) Missense Variant
DDR1 transcript variant 29 NM_001387911.1:c.877C>G L [CTG] > V [GTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001374840.1:p.Leu293Val L (Leu) > V (Val) Missense Variant
DDR1 transcript variant 29 NM_001387911.1:c.877C>T L [CTG] > L [TTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001374840.1:p.Leu293= L (Leu) > L (Leu) Synonymous Variant
DDR1 transcript variant 20 NM_001387902.1:c.877C>A L [CTG] > M [ATG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 2 precursor NP_001374831.1:p.Leu293Met L (Leu) > M (Met) Missense Variant
DDR1 transcript variant 20 NM_001387902.1:c.877C>G L [CTG] > V [GTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 2 precursor NP_001374831.1:p.Leu293Val L (Leu) > V (Val) Missense Variant
DDR1 transcript variant 20 NM_001387902.1:c.877C>T L [CTG] > L [TTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 2 precursor NP_001374831.1:p.Leu293= L (Leu) > L (Leu) Synonymous Variant
DDR1 transcript variant 6 NM_001202523.3:c.877C>A L [CTG] > M [ATG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001189452.2:p.Leu293Met L (Leu) > M (Met) Missense Variant
DDR1 transcript variant 6 NM_001202523.3:c.877C>G L [CTG] > V [GTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001189452.2:p.Leu293Val L (Leu) > V (Val) Missense Variant
DDR1 transcript variant 6 NM_001202523.3:c.877C>T L [CTG] > L [TTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001189452.2:p.Leu293= L (Leu) > L (Leu) Synonymous Variant
DDR1 transcript variant 23 NM_001387905.1:c.877C>A L [CTG] > M [ATG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 7 precursor NP_001374834.1:p.Leu293Met L (Leu) > M (Met) Missense Variant
DDR1 transcript variant 23 NM_001387905.1:c.877C>G L [CTG] > V [GTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 7 precursor NP_001374834.1:p.Leu293Val L (Leu) > V (Val) Missense Variant
DDR1 transcript variant 23 NM_001387905.1:c.877C>T L [CTG] > L [TTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 7 precursor NP_001374834.1:p.Leu293= L (Leu) > L (Leu) Synonymous Variant
DDR1 transcript variant 26 NM_001387908.1:c.877C>A L [CTG] > M [ATG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001374837.1:p.Leu293Met L (Leu) > M (Met) Missense Variant
DDR1 transcript variant 26 NM_001387908.1:c.877C>G L [CTG] > V [GTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001374837.1:p.Leu293Val L (Leu) > V (Val) Missense Variant
DDR1 transcript variant 26 NM_001387908.1:c.877C>T L [CTG] > L [TTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001374837.1:p.Leu293= L (Leu) > L (Leu) Synonymous Variant
DDR1 transcript variant 24 NM_001387906.1:c.877C>A L [CTG] > M [ATG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 7 precursor NP_001374835.1:p.Leu293Met L (Leu) > M (Met) Missense Variant
DDR1 transcript variant 24 NM_001387906.1:c.877C>G L [CTG] > V [GTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 7 precursor NP_001374835.1:p.Leu293Val L (Leu) > V (Val) Missense Variant
DDR1 transcript variant 24 NM_001387906.1:c.877C>T L [CTG] > L [TTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 7 precursor NP_001374835.1:p.Leu293= L (Leu) > L (Leu) Synonymous Variant
DDR1 transcript variant 19 NM_001387901.1:c.877C>A L [CTG] > M [ATG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 2 precursor NP_001374830.1:p.Leu293Met L (Leu) > M (Met) Missense Variant
DDR1 transcript variant 19 NM_001387901.1:c.877C>G L [CTG] > V [GTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 2 precursor NP_001374830.1:p.Leu293Val L (Leu) > V (Val) Missense Variant
DDR1 transcript variant 19 NM_001387901.1:c.877C>T L [CTG] > L [TTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 2 precursor NP_001374830.1:p.Leu293= L (Leu) > L (Leu) Synonymous Variant
DDR1 transcript variant 32 NM_001387914.1:c.877C>A L [CTG] > M [ATG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001374843.1:p.Leu293Met L (Leu) > M (Met) Missense Variant
DDR1 transcript variant 32 NM_001387914.1:c.877C>G L [CTG] > V [GTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001374843.1:p.Leu293Val L (Leu) > V (Val) Missense Variant
DDR1 transcript variant 32 NM_001387914.1:c.877C>T L [CTG] > L [TTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001374843.1:p.Leu293= L (Leu) > L (Leu) Synonymous Variant
DDR1 transcript variant 13 NM_001387895.1:c.877C>A L [CTG] > M [ATG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 2 precursor NP_001374824.1:p.Leu293Met L (Leu) > M (Met) Missense Variant
DDR1 transcript variant 13 NM_001387895.1:c.877C>G L [CTG] > V [GTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 2 precursor NP_001374824.1:p.Leu293Val L (Leu) > V (Val) Missense Variant
DDR1 transcript variant 13 NM_001387895.1:c.877C>T L [CTG] > L [TTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 2 precursor NP_001374824.1:p.Leu293= L (Leu) > L (Leu) Synonymous Variant
DDR1 transcript variant 10 NM_001387892.1:c.877C>A L [CTG] > M [ATG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 3 precursor NP_001374821.1:p.Leu293Met L (Leu) > M (Met) Missense Variant
DDR1 transcript variant 10 NM_001387892.1:c.877C>G L [CTG] > V [GTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 3 precursor NP_001374821.1:p.Leu293Val L (Leu) > V (Val) Missense Variant
DDR1 transcript variant 10 NM_001387892.1:c.877C>T L [CTG] > L [TTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 3 precursor NP_001374821.1:p.Leu293= L (Leu) > L (Leu) Synonymous Variant
DDR1 transcript variant 21 NM_001387903.1:c.877C>A L [CTG] > M [ATG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 2 precursor NP_001374832.1:p.Leu293Met L (Leu) > M (Met) Missense Variant
DDR1 transcript variant 21 NM_001387903.1:c.877C>G L [CTG] > V [GTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 2 precursor NP_001374832.1:p.Leu293Val L (Leu) > V (Val) Missense Variant
DDR1 transcript variant 21 NM_001387903.1:c.877C>T L [CTG] > L [TTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform 2 precursor NP_001374832.1:p.Leu293= L (Leu) > L (Leu) Synonymous Variant
DDR1 transcript variant X1 XM_047419318.1:c.931C>A L [CTG] > M [ATG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X1 XP_047275274.1:p.Leu311Met L (Leu) > M (Met) Missense Variant
DDR1 transcript variant X1 XM_047419318.1:c.931C>G L [CTG] > V [GTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X1 XP_047275274.1:p.Leu311Val L (Leu) > V (Val) Missense Variant
DDR1 transcript variant X1 XM_047419318.1:c.931C>T L [CTG] > L [TTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X1 XP_047275274.1:p.Leu311= L (Leu) > L (Leu) Synonymous Variant
DDR1 transcript variant X2 XM_047419319.1:c.931C>A L [CTG] > M [ATG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X1 XP_047275275.1:p.Leu311Met L (Leu) > M (Met) Missense Variant
DDR1 transcript variant X2 XM_047419319.1:c.931C>G L [CTG] > V [GTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X1 XP_047275275.1:p.Leu311Val L (Leu) > V (Val) Missense Variant
DDR1 transcript variant X2 XM_047419319.1:c.931C>T L [CTG] > L [TTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X1 XP_047275275.1:p.Leu311= L (Leu) > L (Leu) Synonymous Variant
DDR1 transcript variant X4 XM_047419320.1:c.931C>A L [CTG] > M [ATG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X1 XP_047275276.1:p.Leu311Met L (Leu) > M (Met) Missense Variant
DDR1 transcript variant X4 XM_047419320.1:c.931C>G L [CTG] > V [GTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X1 XP_047275276.1:p.Leu311Val L (Leu) > V (Val) Missense Variant
DDR1 transcript variant X4 XM_047419320.1:c.931C>T L [CTG] > L [TTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X1 XP_047275276.1:p.Leu311= L (Leu) > L (Leu) Synonymous Variant
DDR1 transcript variant X3 XM_047419321.1:c.931C>A L [CTG] > M [ATG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X1 XP_047275277.1:p.Leu311Met L (Leu) > M (Met) Missense Variant
DDR1 transcript variant X3 XM_047419321.1:c.931C>G L [CTG] > V [GTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X1 XP_047275277.1:p.Leu311Val L (Leu) > V (Val) Missense Variant
DDR1 transcript variant X3 XM_047419321.1:c.931C>T L [CTG] > L [TTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X1 XP_047275277.1:p.Leu311= L (Leu) > L (Leu) Synonymous Variant
DDR1 transcript variant X5 XM_047419322.1:c.931C>A L [CTG] > M [ATG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X1 XP_047275278.1:p.Leu311Met L (Leu) > M (Met) Missense Variant
DDR1 transcript variant X5 XM_047419322.1:c.931C>G L [CTG] > V [GTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X1 XP_047275278.1:p.Leu311Val L (Leu) > V (Val) Missense Variant
DDR1 transcript variant X5 XM_047419322.1:c.931C>T L [CTG] > L [TTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X1 XP_047275278.1:p.Leu311= L (Leu) > L (Leu) Synonymous Variant
DDR1 transcript variant X14 XM_047419323.1:c.931C>A L [CTG] > M [ATG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X1 XP_047275279.1:p.Leu311Met L (Leu) > M (Met) Missense Variant
DDR1 transcript variant X14 XM_047419323.1:c.931C>G L [CTG] > V [GTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X1 XP_047275279.1:p.Leu311Val L (Leu) > V (Val) Missense Variant
DDR1 transcript variant X14 XM_047419323.1:c.931C>T L [CTG] > L [TTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X1 XP_047275279.1:p.Leu311= L (Leu) > L (Leu) Synonymous Variant
DDR1 transcript variant X6 XM_047419324.1:c.931C>A L [CTG] > M [ATG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X1 XP_047275280.1:p.Leu311Met L (Leu) > M (Met) Missense Variant
DDR1 transcript variant X6 XM_047419324.1:c.931C>G L [CTG] > V [GTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X1 XP_047275280.1:p.Leu311Val L (Leu) > V (Val) Missense Variant
DDR1 transcript variant X6 XM_047419324.1:c.931C>T L [CTG] > L [TTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X1 XP_047275280.1:p.Leu311= L (Leu) > L (Leu) Synonymous Variant
DDR1 transcript variant X15 XM_047419325.1:c.931C>A L [CTG] > M [ATG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X2 XP_047275281.1:p.Leu311Met L (Leu) > M (Met) Missense Variant
DDR1 transcript variant X15 XM_047419325.1:c.931C>G L [CTG] > V [GTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X2 XP_047275281.1:p.Leu311Val L (Leu) > V (Val) Missense Variant
DDR1 transcript variant X15 XM_047419325.1:c.931C>T L [CTG] > L [TTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X2 XP_047275281.1:p.Leu311= L (Leu) > L (Leu) Synonymous Variant
DDR1 transcript variant X7 XM_047419326.1:c.931C>A L [CTG] > M [ATG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X2 XP_047275282.1:p.Leu311Met L (Leu) > M (Met) Missense Variant
DDR1 transcript variant X7 XM_047419326.1:c.931C>G L [CTG] > V [GTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X2 XP_047275282.1:p.Leu311Val L (Leu) > V (Val) Missense Variant
DDR1 transcript variant X7 XM_047419326.1:c.931C>T L [CTG] > L [TTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X2 XP_047275282.1:p.Leu311= L (Leu) > L (Leu) Synonymous Variant
DDR1 transcript variant X12 XM_011514887.3:c.877C>A L [CTG] > M [ATG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X5 XP_011513189.1:p.Leu293Met L (Leu) > M (Met) Missense Variant
DDR1 transcript variant X12 XM_011514887.3:c.877C>G L [CTG] > V [GTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X5 XP_011513189.1:p.Leu293Val L (Leu) > V (Val) Missense Variant
DDR1 transcript variant X12 XM_011514887.3:c.877C>T L [CTG] > L [TTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X5 XP_011513189.1:p.Leu293= L (Leu) > L (Leu) Synonymous Variant
DDR1 transcript variant X8 XM_017011268.3:c.877C>A L [CTG] > M [ATG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X5 XP_016866757.1:p.Leu293Met L (Leu) > M (Met) Missense Variant
DDR1 transcript variant X8 XM_017011268.3:c.877C>G L [CTG] > V [GTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X5 XP_016866757.1:p.Leu293Val L (Leu) > V (Val) Missense Variant
DDR1 transcript variant X8 XM_017011268.3:c.877C>T L [CTG] > L [TTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X5 XP_016866757.1:p.Leu293= L (Leu) > L (Leu) Synonymous Variant
DDR1 transcript variant X16 XM_024446540.2:c.877C>A L [CTG] > M [ATG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X5 XP_024302308.1:p.Leu293Met L (Leu) > M (Met) Missense Variant
DDR1 transcript variant X16 XM_024446540.2:c.877C>G L [CTG] > V [GTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X5 XP_024302308.1:p.Leu293Val L (Leu) > V (Val) Missense Variant
DDR1 transcript variant X16 XM_024446540.2:c.877C>T L [CTG] > L [TTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X5 XP_024302308.1:p.Leu293= L (Leu) > L (Leu) Synonymous Variant
DDR1 transcript variant X17 XM_047419327.1:c.877C>A L [CTG] > M [ATG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X5 XP_047275283.1:p.Leu293Met L (Leu) > M (Met) Missense Variant
DDR1 transcript variant X17 XM_047419327.1:c.877C>G L [CTG] > V [GTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X5 XP_047275283.1:p.Leu293Val L (Leu) > V (Val) Missense Variant
DDR1 transcript variant X17 XM_047419327.1:c.877C>T L [CTG] > L [TTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X5 XP_047275283.1:p.Leu293= L (Leu) > L (Leu) Synonymous Variant
DDR1 transcript variant X9 XM_011514884.2:c.877C>A L [CTG] > M [ATG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X5 XP_011513186.1:p.Leu293Met L (Leu) > M (Met) Missense Variant
DDR1 transcript variant X9 XM_011514884.2:c.877C>G L [CTG] > V [GTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X5 XP_011513186.1:p.Leu293Val L (Leu) > V (Val) Missense Variant
DDR1 transcript variant X9 XM_011514884.2:c.877C>T L [CTG] > L [TTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X5 XP_011513186.1:p.Leu293= L (Leu) > L (Leu) Synonymous Variant
DDR1 transcript variant X18 XM_047419328.1:c.877C>A L [CTG] > M [ATG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X5 XP_047275284.1:p.Leu293Met L (Leu) > M (Met) Missense Variant
DDR1 transcript variant X18 XM_047419328.1:c.877C>G L [CTG] > V [GTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X5 XP_047275284.1:p.Leu293Val L (Leu) > V (Val) Missense Variant
DDR1 transcript variant X18 XM_047419328.1:c.877C>T L [CTG] > L [TTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X5 XP_047275284.1:p.Leu293= L (Leu) > L (Leu) Synonymous Variant
DDR1 transcript variant X10 XM_024446541.2:c.877C>A L [CTG] > M [ATG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X5 XP_024302309.1:p.Leu293Met L (Leu) > M (Met) Missense Variant
DDR1 transcript variant X10 XM_024446541.2:c.877C>G L [CTG] > V [GTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X5 XP_024302309.1:p.Leu293Val L (Leu) > V (Val) Missense Variant
DDR1 transcript variant X10 XM_024446541.2:c.877C>T L [CTG] > L [TTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X5 XP_024302309.1:p.Leu293= L (Leu) > L (Leu) Synonymous Variant
DDR1 transcript variant X11 XM_047419329.1:c.877C>A L [CTG] > M [ATG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X5 XP_047275285.1:p.Leu293Met L (Leu) > M (Met) Missense Variant
DDR1 transcript variant X11 XM_047419329.1:c.877C>G L [CTG] > V [GTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X5 XP_047275285.1:p.Leu293Val L (Leu) > V (Val) Missense Variant
DDR1 transcript variant X11 XM_047419329.1:c.877C>T L [CTG] > L [TTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X5 XP_047275285.1:p.Leu293= L (Leu) > L (Leu) Synonymous Variant
DDR1 transcript variant X19 XM_047419330.1:c.877C>A L [CTG] > M [ATG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X5 XP_047275286.1:p.Leu293Met L (Leu) > M (Met) Missense Variant
DDR1 transcript variant X19 XM_047419330.1:c.877C>G L [CTG] > V [GTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X5 XP_047275286.1:p.Leu293Val L (Leu) > V (Val) Missense Variant
DDR1 transcript variant X19 XM_047419330.1:c.877C>T L [CTG] > L [TTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X5 XP_047275286.1:p.Leu293= L (Leu) > L (Leu) Synonymous Variant
DDR1 transcript variant X20 XM_047419331.1:c.931C>A L [CTG] > M [ATG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X4 XP_047275287.1:p.Leu311Met L (Leu) > M (Met) Missense Variant
DDR1 transcript variant X20 XM_047419331.1:c.931C>G L [CTG] > V [GTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X4 XP_047275287.1:p.Leu311Val L (Leu) > V (Val) Missense Variant
DDR1 transcript variant X20 XM_047419331.1:c.931C>T L [CTG] > L [TTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X4 XP_047275287.1:p.Leu311= L (Leu) > L (Leu) Synonymous Variant
DDR1 transcript variant X21 XM_047419332.1:c.931C>A L [CTG] > M [ATG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X3 XP_047275288.1:p.Leu311Met L (Leu) > M (Met) Missense Variant
DDR1 transcript variant X21 XM_047419332.1:c.931C>G L [CTG] > V [GTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X3 XP_047275288.1:p.Leu311Val L (Leu) > V (Val) Missense Variant
DDR1 transcript variant X21 XM_047419332.1:c.931C>T L [CTG] > L [TTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X3 XP_047275288.1:p.Leu311= L (Leu) > L (Leu) Synonymous Variant
DDR1 transcript variant X13 XM_047419333.1:c.931C>A L [CTG] > M [ATG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X3 XP_047275289.1:p.Leu311Met L (Leu) > M (Met) Missense Variant
DDR1 transcript variant X13 XM_047419333.1:c.931C>G L [CTG] > V [GTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X3 XP_047275289.1:p.Leu311Val L (Leu) > V (Val) Missense Variant
DDR1 transcript variant X13 XM_047419333.1:c.931C>T L [CTG] > L [TTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X3 XP_047275289.1:p.Leu311= L (Leu) > L (Leu) Synonymous Variant
DDR1 transcript variant X22 XM_047419334.1:c.931C>A L [CTG] > M [ATG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X4 XP_047275290.1:p.Leu311Met L (Leu) > M (Met) Missense Variant
DDR1 transcript variant X22 XM_047419334.1:c.931C>G L [CTG] > V [GTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X4 XP_047275290.1:p.Leu311Val L (Leu) > V (Val) Missense Variant
DDR1 transcript variant X22 XM_047419334.1:c.931C>T L [CTG] > L [TTG] Coding Sequence Variant
epithelial discoidin domain-containing receptor 1 isoform X4 XP_047275290.1:p.Leu311= L (Leu) > L (Leu) Synonymous Variant
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Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
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Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement C= A G T
GRCh38.p14 chr 6 NC_000006.12:g.30892320= NC_000006.12:g.30892320C>A NC_000006.12:g.30892320C>G NC_000006.12:g.30892320C>T
GRCh37.p13 chr 6 NC_000006.11:g.30860097= NC_000006.11:g.30860097C>A NC_000006.11:g.30860097C>G NC_000006.11:g.30860097C>T
DDR1 RefSeqGene NG_029066.1:g.13237= NG_029066.1:g.13237C>A NG_029066.1:g.13237C>G NG_029066.1:g.13237C>T
DDR1 transcript variant 1 NM_001954.5:c.877= NM_001954.5:c.877C>A NM_001954.5:c.877C>G NM_001954.5:c.877C>T
DDR1 transcript variant 1 NM_001954.4:c.877= NM_001954.4:c.877C>A NM_001954.4:c.877C>G NM_001954.4:c.877C>T
DDR1 transcript variant 2 NM_013993.3:c.877= NM_013993.3:c.877C>A NM_013993.3:c.877C>G NM_013993.3:c.877C>T
DDR1 transcript variant 2 NM_013993.2:c.877= NM_013993.2:c.877C>A NM_013993.2:c.877C>G NM_013993.2:c.877C>T
DDR1 transcript variant 3 NM_013994.3:c.877= NM_013994.3:c.877C>A NM_013994.3:c.877C>G NM_013994.3:c.877C>T
DDR1 transcript variant 3 NM_013994.2:c.877= NM_013994.2:c.877C>A NM_013994.2:c.877C>G NM_013994.2:c.877C>T
DDR1 transcript variant 6 NM_001202523.3:c.877= NM_001202523.3:c.877C>A NM_001202523.3:c.877C>G NM_001202523.3:c.877C>T
DDR1 transcript variant 6 NM_001202523.2:c.931= NM_001202523.2:c.931C>A NM_001202523.2:c.931C>G NM_001202523.2:c.931C>T
DDR1 transcript variant 6 NM_001202523.1:c.931= NM_001202523.1:c.931C>A NM_001202523.1:c.931C>G NM_001202523.1:c.931C>T
DDR1 transcript variant 9 NM_001297654.2:c.877= NM_001297654.2:c.877C>A NM_001297654.2:c.877C>G NM_001297654.2:c.877C>T
DDR1 transcript variant 9 NM_001297654.1:c.877= NM_001297654.1:c.877C>A NM_001297654.1:c.877C>G NM_001297654.1:c.877C>T
DDR1 transcript variant 8 NM_001297653.2:c.877= NM_001297653.2:c.877C>A NM_001297653.2:c.877C>G NM_001297653.2:c.877C>T
DDR1 transcript variant 8 NM_001297653.1:c.877= NM_001297653.1:c.877C>A NM_001297653.1:c.877C>G NM_001297653.1:c.877C>T
DDR1 transcript variant 7 NM_001297652.2:c.877= NM_001297652.2:c.877C>A NM_001297652.2:c.877C>G NM_001297652.2:c.877C>T
DDR1 transcript variant 7 NM_001297652.1:c.877= NM_001297652.1:c.877C>A NM_001297652.1:c.877C>G NM_001297652.1:c.877C>T
DDR1 transcript variant 21 NM_001387903.1:c.877= NM_001387903.1:c.877C>A NM_001387903.1:c.877C>G NM_001387903.1:c.877C>T
DDR1 transcript variant 19 NM_001387901.1:c.877= NM_001387901.1:c.877C>A NM_001387901.1:c.877C>G NM_001387901.1:c.877C>T
DDR1 transcript variant 17 NM_001387899.1:c.877= NM_001387899.1:c.877C>A NM_001387899.1:c.877C>G NM_001387899.1:c.877C>T
DDR1 transcript variant 13 NM_001387895.1:c.877= NM_001387895.1:c.877C>A NM_001387895.1:c.877C>G NM_001387895.1:c.877C>T
DDR1 transcript variant 15 NM_001387897.1:c.877= NM_001387897.1:c.877C>A NM_001387897.1:c.877C>G NM_001387897.1:c.877C>T
DDR1 transcript variant 20 NM_001387902.1:c.877= NM_001387902.1:c.877C>A NM_001387902.1:c.877C>G NM_001387902.1:c.877C>T
DDR1 transcript variant 12 NM_001387894.1:c.877= NM_001387894.1:c.877C>A NM_001387894.1:c.877C>G NM_001387894.1:c.877C>T
DDR1 transcript variant 29 NM_001387911.1:c.877= NM_001387911.1:c.877C>A NM_001387911.1:c.877C>G NM_001387911.1:c.877C>T
DDR1 transcript variant 33 NM_001387915.1:c.877= NM_001387915.1:c.877C>A NM_001387915.1:c.877C>G NM_001387915.1:c.877C>T
DDR1 transcript variant 11 NM_001387893.1:c.877= NM_001387893.1:c.877C>A NM_001387893.1:c.877C>G NM_001387893.1:c.877C>T
DDR1 transcript variant 35 NM_001387917.1:c.877= NM_001387917.1:c.877C>A NM_001387917.1:c.877C>G NM_001387917.1:c.877C>T
DDR1 transcript variant 34 NM_001387916.1:c.877= NM_001387916.1:c.877C>A NM_001387916.1:c.877C>G NM_001387916.1:c.877C>T
DDR1 transcript variant 32 NM_001387914.1:c.877= NM_001387914.1:c.877C>A NM_001387914.1:c.877C>G NM_001387914.1:c.877C>T
DDR1 transcript variant 30 NM_001387912.1:c.877= NM_001387912.1:c.877C>A NM_001387912.1:c.877C>G NM_001387912.1:c.877C>T
DDR1 transcript variant 22 NM_001387904.1:c.877= NM_001387904.1:c.877C>A NM_001387904.1:c.877C>G NM_001387904.1:c.877C>T
DDR1 transcript variant 36 NM_001387918.1:c.877= NM_001387918.1:c.877C>A NM_001387918.1:c.877C>G NM_001387918.1:c.877C>T
DDR1 transcript variant 14 NM_001387896.1:c.877= NM_001387896.1:c.877C>A NM_001387896.1:c.877C>G NM_001387896.1:c.877C>T
DDR1 transcript variant 27 NM_001387909.1:c.877= NM_001387909.1:c.877C>A NM_001387909.1:c.877C>G NM_001387909.1:c.877C>T
DDR1 transcript variant 24 NM_001387906.1:c.877= NM_001387906.1:c.877C>A NM_001387906.1:c.877C>G NM_001387906.1:c.877C>T
DDR1 transcript variant 10 NM_001387892.1:c.877= NM_001387892.1:c.877C>A NM_001387892.1:c.877C>G NM_001387892.1:c.877C>T
DDR1 transcript variant 16 NM_001387898.1:c.877= NM_001387898.1:c.877C>A NM_001387898.1:c.877C>G NM_001387898.1:c.877C>T
DDR1 transcript variant 18 NM_001387900.1:c.877= NM_001387900.1:c.877C>A NM_001387900.1:c.877C>G NM_001387900.1:c.877C>T
DDR1 transcript variant 26 NM_001387908.1:c.877= NM_001387908.1:c.877C>A NM_001387908.1:c.877C>G NM_001387908.1:c.877C>T
DDR1 transcript variant 28 NM_001387910.1:c.877= NM_001387910.1:c.877C>A NM_001387910.1:c.877C>G NM_001387910.1:c.877C>T
DDR1 transcript variant 25 NM_001387907.1:c.877= NM_001387907.1:c.877C>A NM_001387907.1:c.877C>G NM_001387907.1:c.877C>T
DDR1 transcript variant 23 NM_001387905.1:c.877= NM_001387905.1:c.877C>A NM_001387905.1:c.877C>G NM_001387905.1:c.877C>T
DDR1 transcript variant 31 NM_001387913.1:c.877= NM_001387913.1:c.877C>A NM_001387913.1:c.877C>G NM_001387913.1:c.877C>T
DDR1 transcript variant 4 NM_001202521.1:c.877= NM_001202521.1:c.877C>A NM_001202521.1:c.877C>G NM_001202521.1:c.877C>T
DDR1 transcript variant 5 NM_001202522.1:c.877= NM_001202522.1:c.877C>A NM_001202522.1:c.877C>G NM_001202522.1:c.877C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.2372091= NT_113891.3:g.2372091C>A NT_113891.3:g.2372091C>G NT_113891.3:g.2372091C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.2372197= NT_113891.2:g.2372197C>A NT_113891.2:g.2372197C>G NT_113891.2:g.2372197C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.2147490= NT_167248.2:g.2147490C>A NT_167248.2:g.2147490C>G NT_167248.2:g.2147490C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.2153086= NT_167248.1:g.2153086C>A NT_167248.1:g.2153086C>G NT_167248.1:g.2153086C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.2202558= NT_167246.2:g.2202558C>A NT_167246.2:g.2202558C>G NT_167246.2:g.2202558C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.2208178= NT_167246.1:g.2208178C>A NT_167246.1:g.2208178C>G NT_167246.1:g.2208178C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.2148630= NT_167245.2:g.2148630C>A NT_167245.2:g.2148630C>G NT_167245.2:g.2148630C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.2154215= NT_167245.1:g.2154215C>A NT_167245.1:g.2154215C>G NT_167245.1:g.2154215C>T
DDR1 transcript variant X12 XM_011514887.3:c.877= XM_011514887.3:c.877C>A XM_011514887.3:c.877C>G XM_011514887.3:c.877C>T
DDR1 transcript variant X8 XM_011514887.2:c.877= XM_011514887.2:c.877C>A XM_011514887.2:c.877C>G XM_011514887.2:c.877C>T
DDR1 transcript variant X7 XM_011514887.1:c.877= XM_011514887.1:c.877C>A XM_011514887.1:c.877C>G XM_011514887.1:c.877C>T
DDR1 transcript variant X8 XM_017011268.3:c.877= XM_017011268.3:c.877C>A XM_017011268.3:c.877C>G XM_017011268.3:c.877C>T
DDR1 transcript variant X11 XM_017011268.2:c.877= XM_017011268.2:c.877C>A XM_017011268.2:c.877C>G XM_017011268.2:c.877C>T
DDR1 transcript variant X8 XM_017011268.1:c.877= XM_017011268.1:c.877C>A XM_017011268.1:c.877C>G XM_017011268.1:c.877C>T
DDR1 transcript variant X10 XM_024446541.2:c.877= XM_024446541.2:c.877C>A XM_024446541.2:c.877C>G XM_024446541.2:c.877C>T
DDR1 transcript variant X9 XM_024446541.1:c.877= XM_024446541.1:c.877C>A XM_024446541.1:c.877C>G XM_024446541.1:c.877C>T
DDR1 transcript variant X16 XM_024446540.2:c.877= XM_024446540.2:c.877C>A XM_024446540.2:c.877C>G XM_024446540.2:c.877C>T
DDR1 transcript variant X3 XM_024446540.1:c.877= XM_024446540.1:c.877C>A XM_024446540.1:c.877C>G XM_024446540.1:c.877C>T
DDR1 transcript variant X1 XM_047419318.1:c.931= XM_047419318.1:c.931C>A XM_047419318.1:c.931C>G XM_047419318.1:c.931C>T
DDR1 transcript variant X3 XM_047419321.1:c.931= XM_047419321.1:c.931C>A XM_047419321.1:c.931C>G XM_047419321.1:c.931C>T
DDR1 transcript variant X6 XM_047419324.1:c.931= XM_047419324.1:c.931C>A XM_047419324.1:c.931C>G XM_047419324.1:c.931C>T
DDR1 transcript variant X4 XM_047419320.1:c.931= XM_047419320.1:c.931C>A XM_047419320.1:c.931C>G XM_047419320.1:c.931C>T
DDR1 transcript variant X13 XM_047419333.1:c.931= XM_047419333.1:c.931C>A XM_047419333.1:c.931C>G XM_047419333.1:c.931C>T
DDR1 transcript variant X22 XM_047419334.1:c.931= XM_047419334.1:c.931C>A XM_047419334.1:c.931C>G XM_047419334.1:c.931C>T
DDR1 transcript variant 37 NM_001410869.1:c.931= NM_001410869.1:c.931C>A NM_001410869.1:c.931C>G NM_001410869.1:c.931C>T
DDR1 transcript variant X7 XM_047419326.1:c.931= XM_047419326.1:c.931C>A XM_047419326.1:c.931C>G XM_047419326.1:c.931C>T
DDR1 transcript variant X11 XM_047419329.1:c.877= XM_047419329.1:c.877C>A XM_047419329.1:c.877C>G XM_047419329.1:c.877C>T
DDR1 transcript variant X20 XM_047419331.1:c.931= XM_047419331.1:c.931C>A XM_047419331.1:c.931C>G XM_047419331.1:c.931C>T
DDR1 transcript variant X21 XM_047419332.1:c.931= XM_047419332.1:c.931C>A XM_047419332.1:c.931C>G XM_047419332.1:c.931C>T
DDR1 transcript variant X5 XM_047419322.1:c.931= XM_047419322.1:c.931C>A XM_047419322.1:c.931C>G XM_047419322.1:c.931C>T
DDR1 transcript variant X9 XM_011514884.2:c.877= XM_011514884.2:c.877C>A XM_011514884.2:c.877C>G XM_011514884.2:c.877C>T
DDR1 transcript variant X5 XM_011514884.1:c.877= XM_011514884.1:c.877C>A XM_011514884.1:c.877C>G XM_011514884.1:c.877C>T
DDR1 transcript variant X18 XM_047419328.1:c.877= XM_047419328.1:c.877C>A XM_047419328.1:c.877C>G XM_047419328.1:c.877C>T
DDR1 transcript variant X17 XM_047419327.1:c.877= XM_047419327.1:c.877C>A XM_047419327.1:c.877C>G XM_047419327.1:c.877C>T
DDR1 transcript variant X19 XM_047419330.1:c.877= XM_047419330.1:c.877C>A XM_047419330.1:c.877C>G XM_047419330.1:c.877C>T
DDR1 transcript variant X14 XM_047419323.1:c.931= XM_047419323.1:c.931C>A XM_047419323.1:c.931C>G XM_047419323.1:c.931C>T
DDR1 transcript variant X15 XM_047419325.1:c.931= XM_047419325.1:c.931C>A XM_047419325.1:c.931C>G XM_047419325.1:c.931C>T
DDR1 transcript variant X2 XM_047419319.1:c.931= XM_047419319.1:c.931C>A XM_047419319.1:c.931C>G XM_047419319.1:c.931C>T
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001945.3:p.Leu293= NP_001945.3:p.Leu293Met NP_001945.3:p.Leu293Val NP_001945.3:p.Leu293=
epithelial discoidin domain-containing receptor 1 isoform 2 precursor NP_054699.2:p.Leu293= NP_054699.2:p.Leu293Met NP_054699.2:p.Leu293Val NP_054699.2:p.Leu293=
epithelial discoidin domain-containing receptor 1 isoform 3 precursor NP_054700.2:p.Leu293= NP_054700.2:p.Leu293Met NP_054700.2:p.Leu293Val NP_054700.2:p.Leu293=
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001189452.2:p.Leu293= NP_001189452.2:p.Leu293Met NP_001189452.2:p.Leu293Val NP_001189452.2:p.Leu293=
epithelial discoidin domain-containing receptor 1 isoform 2 precursor NP_001284583.1:p.Leu293= NP_001284583.1:p.Leu293Met NP_001284583.1:p.Leu293Val NP_001284583.1:p.Leu293=
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001284582.1:p.Leu293= NP_001284582.1:p.Leu293Met NP_001284582.1:p.Leu293Val NP_001284582.1:p.Leu293=
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001284581.1:p.Leu293= NP_001284581.1:p.Leu293Met NP_001284581.1:p.Leu293Val NP_001284581.1:p.Leu293=
epithelial discoidin domain-containing receptor 1 isoform 2 precursor NP_001374832.1:p.Leu293= NP_001374832.1:p.Leu293Met NP_001374832.1:p.Leu293Val NP_001374832.1:p.Leu293=
epithelial discoidin domain-containing receptor 1 isoform 2 precursor NP_001374830.1:p.Leu293= NP_001374830.1:p.Leu293Met NP_001374830.1:p.Leu293Val NP_001374830.1:p.Leu293=
epithelial discoidin domain-containing receptor 1 isoform 2 precursor NP_001374828.1:p.Leu293= NP_001374828.1:p.Leu293Met NP_001374828.1:p.Leu293Val NP_001374828.1:p.Leu293=
epithelial discoidin domain-containing receptor 1 isoform 2 precursor NP_001374824.1:p.Leu293= NP_001374824.1:p.Leu293Met NP_001374824.1:p.Leu293Val NP_001374824.1:p.Leu293=
epithelial discoidin domain-containing receptor 1 isoform 2 precursor NP_001374826.1:p.Leu293= NP_001374826.1:p.Leu293Met NP_001374826.1:p.Leu293Val NP_001374826.1:p.Leu293=
epithelial discoidin domain-containing receptor 1 isoform 2 precursor NP_001374831.1:p.Leu293= NP_001374831.1:p.Leu293Met NP_001374831.1:p.Leu293Val NP_001374831.1:p.Leu293=
epithelial discoidin domain-containing receptor 1 isoform 2 precursor NP_001374823.1:p.Leu293= NP_001374823.1:p.Leu293Met NP_001374823.1:p.Leu293Val NP_001374823.1:p.Leu293=
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001374840.1:p.Leu293= NP_001374840.1:p.Leu293Met NP_001374840.1:p.Leu293Val NP_001374840.1:p.Leu293=
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001374844.1:p.Leu293= NP_001374844.1:p.Leu293Met NP_001374844.1:p.Leu293Val NP_001374844.1:p.Leu293=
epithelial discoidin domain-containing receptor 1 isoform 2 precursor NP_001374822.1:p.Leu293= NP_001374822.1:p.Leu293Met NP_001374822.1:p.Leu293Val NP_001374822.1:p.Leu293=
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001374846.1:p.Leu293= NP_001374846.1:p.Leu293Met NP_001374846.1:p.Leu293Val NP_001374846.1:p.Leu293=
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001374845.1:p.Leu293= NP_001374845.1:p.Leu293Met NP_001374845.1:p.Leu293Val NP_001374845.1:p.Leu293=
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001374843.1:p.Leu293= NP_001374843.1:p.Leu293Met NP_001374843.1:p.Leu293Val NP_001374843.1:p.Leu293=
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001374841.1:p.Leu293= NP_001374841.1:p.Leu293Met NP_001374841.1:p.Leu293Val NP_001374841.1:p.Leu293=
epithelial discoidin domain-containing receptor 1 isoform 2 precursor NP_001374833.1:p.Leu293= NP_001374833.1:p.Leu293Met NP_001374833.1:p.Leu293Val NP_001374833.1:p.Leu293=
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001374847.1:p.Leu293= NP_001374847.1:p.Leu293Met NP_001374847.1:p.Leu293Val NP_001374847.1:p.Leu293=
epithelial discoidin domain-containing receptor 1 isoform 2 precursor NP_001374825.1:p.Leu293= NP_001374825.1:p.Leu293Met NP_001374825.1:p.Leu293Val NP_001374825.1:p.Leu293=
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001374838.1:p.Leu293= NP_001374838.1:p.Leu293Met NP_001374838.1:p.Leu293Val NP_001374838.1:p.Leu293=
epithelial discoidin domain-containing receptor 1 isoform 7 precursor NP_001374835.1:p.Leu293= NP_001374835.1:p.Leu293Met NP_001374835.1:p.Leu293Val NP_001374835.1:p.Leu293=
epithelial discoidin domain-containing receptor 1 isoform 3 precursor NP_001374821.1:p.Leu293= NP_001374821.1:p.Leu293Met NP_001374821.1:p.Leu293Val NP_001374821.1:p.Leu293=
epithelial discoidin domain-containing receptor 1 isoform 2 precursor NP_001374827.1:p.Leu293= NP_001374827.1:p.Leu293Met NP_001374827.1:p.Leu293Val NP_001374827.1:p.Leu293=
epithelial discoidin domain-containing receptor 1 isoform 2 precursor NP_001374829.1:p.Leu293= NP_001374829.1:p.Leu293Met NP_001374829.1:p.Leu293Val NP_001374829.1:p.Leu293=
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001374837.1:p.Leu293= NP_001374837.1:p.Leu293Met NP_001374837.1:p.Leu293Val NP_001374837.1:p.Leu293=
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001374839.1:p.Leu293= NP_001374839.1:p.Leu293Met NP_001374839.1:p.Leu293Val NP_001374839.1:p.Leu293=
epithelial discoidin domain-containing receptor 1 isoform 7 precursor NP_001374836.1:p.Leu293= NP_001374836.1:p.Leu293Met NP_001374836.1:p.Leu293Val NP_001374836.1:p.Leu293=
epithelial discoidin domain-containing receptor 1 isoform 7 precursor NP_001374834.1:p.Leu293= NP_001374834.1:p.Leu293Met NP_001374834.1:p.Leu293Val NP_001374834.1:p.Leu293=
epithelial discoidin domain-containing receptor 1 isoform 1 precursor NP_001374842.1:p.Leu293= NP_001374842.1:p.Leu293Met NP_001374842.1:p.Leu293Val NP_001374842.1:p.Leu293=
epithelial discoidin domain-containing receptor 1 isoform 4 precursor NP_001189450.1:p.Leu293= NP_001189450.1:p.Leu293Met NP_001189450.1:p.Leu293Val NP_001189450.1:p.Leu293=
epithelial discoidin domain-containing receptor 1 isoform 5 precursor NP_001189451.1:p.Leu293= NP_001189451.1:p.Leu293Met NP_001189451.1:p.Leu293Val NP_001189451.1:p.Leu293=
epithelial discoidin domain-containing receptor 1 isoform X5 XP_011513189.1:p.Leu293= XP_011513189.1:p.Leu293Met XP_011513189.1:p.Leu293Val XP_011513189.1:p.Leu293=
epithelial discoidin domain-containing receptor 1 isoform X5 XP_016866757.1:p.Leu293= XP_016866757.1:p.Leu293Met XP_016866757.1:p.Leu293Val XP_016866757.1:p.Leu293=
epithelial discoidin domain-containing receptor 1 isoform X5 XP_024302309.1:p.Leu293= XP_024302309.1:p.Leu293Met XP_024302309.1:p.Leu293Val XP_024302309.1:p.Leu293=
epithelial discoidin domain-containing receptor 1 isoform X5 XP_024302308.1:p.Leu293= XP_024302308.1:p.Leu293Met XP_024302308.1:p.Leu293Val XP_024302308.1:p.Leu293=
epithelial discoidin domain-containing receptor 1 isoform X1 XP_047275274.1:p.Leu311= XP_047275274.1:p.Leu311Met XP_047275274.1:p.Leu311Val XP_047275274.1:p.Leu311=
epithelial discoidin domain-containing receptor 1 isoform X1 XP_047275277.1:p.Leu311= XP_047275277.1:p.Leu311Met XP_047275277.1:p.Leu311Val XP_047275277.1:p.Leu311=
epithelial discoidin domain-containing receptor 1 isoform X1 XP_047275280.1:p.Leu311= XP_047275280.1:p.Leu311Met XP_047275280.1:p.Leu311Val XP_047275280.1:p.Leu311=
epithelial discoidin domain-containing receptor 1 isoform X1 XP_047275276.1:p.Leu311= XP_047275276.1:p.Leu311Met XP_047275276.1:p.Leu311Val XP_047275276.1:p.Leu311=
epithelial discoidin domain-containing receptor 1 isoform X3 XP_047275289.1:p.Leu311= XP_047275289.1:p.Leu311Met XP_047275289.1:p.Leu311Val XP_047275289.1:p.Leu311=
epithelial discoidin domain-containing receptor 1 isoform X4 XP_047275290.1:p.Leu311= XP_047275290.1:p.Leu311Met XP_047275290.1:p.Leu311Val XP_047275290.1:p.Leu311=
epithelial discoidin domain-containing receptor 1 isoform X2 XP_047275282.1:p.Leu311= XP_047275282.1:p.Leu311Met XP_047275282.1:p.Leu311Val XP_047275282.1:p.Leu311=
epithelial discoidin domain-containing receptor 1 isoform X5 XP_047275285.1:p.Leu293= XP_047275285.1:p.Leu293Met XP_047275285.1:p.Leu293Val XP_047275285.1:p.Leu293=
epithelial discoidin domain-containing receptor 1 isoform X4 XP_047275287.1:p.Leu311= XP_047275287.1:p.Leu311Met XP_047275287.1:p.Leu311Val XP_047275287.1:p.Leu311=
epithelial discoidin domain-containing receptor 1 isoform X3 XP_047275288.1:p.Leu311= XP_047275288.1:p.Leu311Met XP_047275288.1:p.Leu311Val XP_047275288.1:p.Leu311=
epithelial discoidin domain-containing receptor 1 isoform X1 XP_047275278.1:p.Leu311= XP_047275278.1:p.Leu311Met XP_047275278.1:p.Leu311Val XP_047275278.1:p.Leu311=
epithelial discoidin domain-containing receptor 1 isoform X5 XP_011513186.1:p.Leu293= XP_011513186.1:p.Leu293Met XP_011513186.1:p.Leu293Val XP_011513186.1:p.Leu293=
epithelial discoidin domain-containing receptor 1 isoform X5 XP_047275284.1:p.Leu293= XP_047275284.1:p.Leu293Met XP_047275284.1:p.Leu293Val XP_047275284.1:p.Leu293=
epithelial discoidin domain-containing receptor 1 isoform X5 XP_047275283.1:p.Leu293= XP_047275283.1:p.Leu293Met XP_047275283.1:p.Leu293Val XP_047275283.1:p.Leu293=
epithelial discoidin domain-containing receptor 1 isoform X5 XP_047275286.1:p.Leu293= XP_047275286.1:p.Leu293Met XP_047275286.1:p.Leu293Val XP_047275286.1:p.Leu293=
epithelial discoidin domain-containing receptor 1 isoform X1 XP_047275279.1:p.Leu311= XP_047275279.1:p.Leu311Met XP_047275279.1:p.Leu311Val XP_047275279.1:p.Leu311=
epithelial discoidin domain-containing receptor 1 isoform X2 XP_047275281.1:p.Leu311= XP_047275281.1:p.Leu311Met XP_047275281.1:p.Leu311Val XP_047275281.1:p.Leu311=
epithelial discoidin domain-containing receptor 1 isoform X1 XP_047275275.1:p.Leu311= XP_047275275.1:p.Leu311Met XP_047275275.1:p.Leu311Val XP_047275275.1:p.Leu311=
epithelial discoidin domain-containing receptor 1 isoform 6 precursor NP_001189452.1:p.Leu311= NP_001189452.1:p.Leu311Met NP_001189452.1:p.Leu311Val NP_001189452.1:p.Leu311=
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

5 SubSNP, 2 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2735635242 Nov 08, 2017 (151)
2 GNOMAD ss2747576913 Nov 08, 2017 (151)
3 GNOMAD ss2837368269 Nov 08, 2017 (151)
4 EVA ss5935801342 Oct 17, 2022 (156)
5 EVA ss5935801343 Oct 17, 2022 (156)
6 gnomAD - Genomes NC_000006.12 - 30892320 Apr 26, 2021 (155)
7 gnomAD - Exomes NC_000006.11 - 30860097 Jul 13, 2019 (153)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss5935801342 NC_000006.11:30860096:C:A NC_000006.12:30892319:C:A
4778267, ss2735635242, ss2747576913, ss2837368269, ss5935801342 NC_000006.11:30860096:C:G NC_000006.12:30892319:C:G (self)
221086274 NC_000006.12:30892319:C:G NC_000006.12:30892319:C:G (self)
ss5935801343 NC_000006.11:30860096:C:T NC_000006.12:30892319:C:T
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1483503419

Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post820+afb47a3d