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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs1489551816

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:87193343 (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
A>C / A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.000004 (1/250546, GnomAD_exome)
G=0.0005 (1/1832, Korea1K)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
DMTF1 : 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 250546 A=0.999996 C=0.000004
gnomAD - Exomes European Sub 134718 A=0.999993 C=0.000007
gnomAD - Exomes Asian Sub 48984 A=1.00000 C=0.00000
gnomAD - Exomes American Sub 34444 A=1.00000 C=0.00000
gnomAD - Exomes African Sub 16244 A=1.00000 C=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10050 A=1.00000 C=0.00000
gnomAD - Exomes Other Sub 6106 A=1.0000 C=0.0000
Korean Genome Project KOREAN Study-wide 1832 A=0.9995 G=0.0005
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 7 NC_000007.14:g.87193343A>C
GRCh38.p14 chr 7 NC_000007.14:g.87193343A>G
GRCh37.p13 chr 7 NC_000007.13:g.86822659A>C
GRCh37.p13 chr 7 NC_000007.13:g.86822659A>G
DMTF1 RefSeqGene NG_029536.1:g.45983A>C
DMTF1 RefSeqGene NG_029536.1:g.45983A>G
Gene: DMTF1, cyclin D binding myb like transcription factor 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
DMTF1 transcript variant 2 NM_001142327.2:c.1640A>C H [CAT] > P [CCT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform a NP_001135799.1:p.His547Pro H (His) > P (Pro) Missense Variant
DMTF1 transcript variant 2 NM_001142327.2:c.1640A>G H [CAT] > R [CGT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform a NP_001135799.1:p.His547Arg H (His) > R (Arg) Missense Variant
DMTF1 transcript variant 3 NM_001142326.2:c.1376A>C H [CAT] > P [CCT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform b NP_001135798.1:p.His459Pro H (His) > P (Pro) Missense Variant
DMTF1 transcript variant 3 NM_001142326.2:c.1376A>G H [CAT] > R [CGT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform b NP_001135798.1:p.His459Arg H (His) > R (Arg) Missense Variant
DMTF1 transcript variant 1 NM_021145.4:c.1640A>C H [CAT] > P [CCT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform a NP_066968.3:p.His547Pro H (His) > P (Pro) Missense Variant
DMTF1 transcript variant 1 NM_021145.4:c.1640A>G H [CAT] > R [CGT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform a NP_066968.3:p.His547Arg H (His) > R (Arg) Missense Variant
DMTF1 transcript variant 4 NR_024549.2:n.2085A>C N/A Non Coding Transcript Variant
DMTF1 transcript variant 4 NR_024549.2:n.2085A>G N/A Non Coding Transcript Variant
DMTF1 transcript variant 5 NR_024550.2:n.2046A>C N/A Non Coding Transcript Variant
DMTF1 transcript variant 5 NR_024550.2:n.2046A>G N/A Non Coding Transcript Variant
DMTF1 transcript variant X1 XM_011516737.1:c.1640A>C H [CAT] > P [CCT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_011515039.1:p.His547Pro H (His) > P (Pro) Missense Variant
DMTF1 transcript variant X1 XM_011516737.1:c.1640A>G H [CAT] > R [CGT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_011515039.1:p.His547Arg H (His) > R (Arg) Missense Variant
DMTF1 transcript variant X33 XM_017012868.1:c.1640A>C H [CAT] > P [CCT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X3 XP_016868357.1:p.His547Pro H (His) > P (Pro) Missense Variant
DMTF1 transcript variant X33 XM_017012868.1:c.1640A>G H [CAT] > R [CGT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X3 XP_016868357.1:p.His547Arg H (His) > R (Arg) Missense Variant
DMTF1 transcript variant X43 XM_047421099.1:c.1640A>C H [CAT] > P [CCT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_047277055.1:p.His547Pro H (His) > P (Pro) Missense Variant
DMTF1 transcript variant X43 XM_047421099.1:c.1640A>G H [CAT] > R [CGT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_047277055.1:p.His547Arg H (His) > R (Arg) Missense Variant
DMTF1 transcript variant X2 XM_047421100.1:c.1640A>C H [CAT] > P [CCT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_047277056.1:p.His547Pro H (His) > P (Pro) Missense Variant
DMTF1 transcript variant X2 XM_047421100.1:c.1640A>G H [CAT] > R [CGT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_047277056.1:p.His547Arg H (His) > R (Arg) Missense Variant
DMTF1 transcript variant X3 XM_024447016.2:c.1640A>C H [CAT] > P [CCT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_024302784.1:p.His547Pro H (His) > P (Pro) Missense Variant
DMTF1 transcript variant X3 XM_024447016.2:c.1640A>G H [CAT] > R [CGT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_024302784.1:p.His547Arg H (His) > R (Arg) Missense Variant
DMTF1 transcript variant X4 XM_024447020.2:c.1640A>C H [CAT] > P [CCT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_024302788.1:p.His547Pro H (His) > P (Pro) Missense Variant
DMTF1 transcript variant X4 XM_024447020.2:c.1640A>G H [CAT] > R [CGT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_024302788.1:p.His547Arg H (His) > R (Arg) Missense Variant
DMTF1 transcript variant X14 XM_024447019.2:c.1640A>C H [CAT] > P [CCT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_024302787.1:p.His547Pro H (His) > P (Pro) Missense Variant
DMTF1 transcript variant X14 XM_024447019.2:c.1640A>G H [CAT] > R [CGT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_024302787.1:p.His547Arg H (His) > R (Arg) Missense Variant
DMTF1 transcript variant X5 XM_024447018.2:c.1640A>C H [CAT] > P [CCT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_024302786.1:p.His547Pro H (His) > P (Pro) Missense Variant
DMTF1 transcript variant X5 XM_024447018.2:c.1640A>G H [CAT] > R [CGT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_024302786.1:p.His547Arg H (His) > R (Arg) Missense Variant
DMTF1 transcript variant X6 XM_024447017.2:c.1640A>C H [CAT] > P [CCT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_024302785.1:p.His547Pro H (His) > P (Pro) Missense Variant
DMTF1 transcript variant X6 XM_024447017.2:c.1640A>G H [CAT] > R [CGT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_024302785.1:p.His547Arg H (His) > R (Arg) Missense Variant
DMTF1 transcript variant X7 XM_047421101.1:c.1640A>C H [CAT] > P [CCT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_047277057.1:p.His547Pro H (His) > P (Pro) Missense Variant
DMTF1 transcript variant X7 XM_047421101.1:c.1640A>G H [CAT] > R [CGT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_047277057.1:p.His547Arg H (His) > R (Arg) Missense Variant
DMTF1 transcript variant X8 XM_047421102.1:c.1640A>C H [CAT] > P [CCT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_047277058.1:p.His547Pro H (His) > P (Pro) Missense Variant
DMTF1 transcript variant X8 XM_047421102.1:c.1640A>G H [CAT] > R [CGT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_047277058.1:p.His547Arg H (His) > R (Arg) Missense Variant
DMTF1 transcript variant X9 XM_024447022.2:c.1640A>C H [CAT] > P [CCT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_024302790.1:p.His547Pro H (His) > P (Pro) Missense Variant
DMTF1 transcript variant X9 XM_024447022.2:c.1640A>G H [CAT] > R [CGT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_024302790.1:p.His547Arg H (His) > R (Arg) Missense Variant
DMTF1 transcript variant X16 XM_024447021.2:c.1640A>C H [CAT] > P [CCT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_024302789.1:p.His547Pro H (His) > P (Pro) Missense Variant
DMTF1 transcript variant X16 XM_024447021.2:c.1640A>G H [CAT] > R [CGT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_024302789.1:p.His547Arg H (His) > R (Arg) Missense Variant
DMTF1 transcript variant X44 XM_047421103.1:c.1640A>C H [CAT] > P [CCT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_047277059.1:p.His547Pro H (His) > P (Pro) Missense Variant
DMTF1 transcript variant X44 XM_047421103.1:c.1640A>G H [CAT] > R [CGT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_047277059.1:p.His547Arg H (His) > R (Arg) Missense Variant
DMTF1 transcript variant X17 XM_047421104.1:c.1640A>C H [CAT] > P [CCT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_047277060.1:p.His547Pro H (His) > P (Pro) Missense Variant
DMTF1 transcript variant X17 XM_047421104.1:c.1640A>G H [CAT] > R [CGT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_047277060.1:p.His547Arg H (His) > R (Arg) Missense Variant
DMTF1 transcript variant X18 XM_047421105.1:c.1640A>C H [CAT] > P [CCT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_047277061.1:p.His547Pro H (His) > P (Pro) Missense Variant
DMTF1 transcript variant X18 XM_047421105.1:c.1640A>G H [CAT] > R [CGT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_047277061.1:p.His547Arg H (His) > R (Arg) Missense Variant
DMTF1 transcript variant X10 XM_047421106.1:c.1640A>C H [CAT] > P [CCT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_047277062.1:p.His547Pro H (His) > P (Pro) Missense Variant
DMTF1 transcript variant X10 XM_047421106.1:c.1640A>G H [CAT] > R [CGT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_047277062.1:p.His547Arg H (His) > R (Arg) Missense Variant
DMTF1 transcript variant X11 XM_047421107.1:c.1640A>C H [CAT] > P [CCT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_047277063.1:p.His547Pro H (His) > P (Pro) Missense Variant
DMTF1 transcript variant X11 XM_047421107.1:c.1640A>G H [CAT] > R [CGT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_047277063.1:p.His547Arg H (His) > R (Arg) Missense Variant
DMTF1 transcript variant X12 XM_047421108.1:c.1640A>C H [CAT] > P [CCT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_047277064.1:p.His547Pro H (His) > P (Pro) Missense Variant
DMTF1 transcript variant X12 XM_047421108.1:c.1640A>G H [CAT] > R [CGT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_047277064.1:p.His547Arg H (His) > R (Arg) Missense Variant
DMTF1 transcript variant X45 XM_047421109.1:c.1640A>C H [CAT] > P [CCT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_047277065.1:p.His547Pro H (His) > P (Pro) Missense Variant
DMTF1 transcript variant X45 XM_047421109.1:c.1640A>G H [CAT] > R [CGT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_047277065.1:p.His547Arg H (His) > R (Arg) Missense Variant
DMTF1 transcript variant X46 XM_047421110.1:c.1640A>C H [CAT] > P [CCT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_047277066.1:p.His547Pro H (His) > P (Pro) Missense Variant
DMTF1 transcript variant X46 XM_047421110.1:c.1640A>G H [CAT] > R [CGT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_047277066.1:p.His547Arg H (His) > R (Arg) Missense Variant
DMTF1 transcript variant X13 XM_047421111.1:c.1640A>C H [CAT] > P [CCT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_047277067.1:p.His547Pro H (His) > P (Pro) Missense Variant
DMTF1 transcript variant X13 XM_047421111.1:c.1640A>G H [CAT] > R [CGT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_047277067.1:p.His547Arg H (His) > R (Arg) Missense Variant
DMTF1 transcript variant X15 XM_047421112.1:c.1640A>C H [CAT] > P [CCT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_047277068.1:p.His547Pro H (His) > P (Pro) Missense Variant
DMTF1 transcript variant X15 XM_047421112.1:c.1640A>G H [CAT] > R [CGT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_047277068.1:p.His547Arg H (His) > R (Arg) Missense Variant
DMTF1 transcript variant X47 XM_047421113.1:c.1517A>C H [CAT] > P [CCT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X2 XP_047277069.1:p.His506Pro H (His) > P (Pro) Missense Variant
DMTF1 transcript variant X47 XM_047421113.1:c.1517A>G H [CAT] > R [CGT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X2 XP_047277069.1:p.His506Arg H (His) > R (Arg) Missense Variant
DMTF1 transcript variant X19 XM_011516739.4:c.1517A>C H [CAT] > P [CCT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X2 XP_011515041.1:p.His506Pro H (His) > P (Pro) Missense Variant
DMTF1 transcript variant X19 XM_011516739.4:c.1517A>G H [CAT] > R [CGT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X2 XP_011515041.1:p.His506Arg H (His) > R (Arg) Missense Variant
DMTF1 transcript variant X20 XM_047421114.1:c.1517A>C H [CAT] > P [CCT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X2 XP_047277070.1:p.His506Pro H (His) > P (Pro) Missense Variant
DMTF1 transcript variant X20 XM_047421114.1:c.1517A>G H [CAT] > R [CGT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X2 XP_047277070.1:p.His506Arg H (His) > R (Arg) Missense Variant
DMTF1 transcript variant X21 XM_047421115.1:c.1517A>C H [CAT] > P [CCT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X2 XP_047277071.1:p.His506Pro H (His) > P (Pro) Missense Variant
DMTF1 transcript variant X21 XM_047421115.1:c.1517A>G H [CAT] > R [CGT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X2 XP_047277071.1:p.His506Arg H (His) > R (Arg) Missense Variant
DMTF1 transcript variant X22 XM_047421116.1:c.1517A>C H [CAT] > P [CCT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X2 XP_047277072.1:p.His506Pro H (His) > P (Pro) Missense Variant
DMTF1 transcript variant X22 XM_047421116.1:c.1517A>G H [CAT] > R [CGT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X2 XP_047277072.1:p.His506Arg H (His) > R (Arg) Missense Variant
DMTF1 transcript variant X23 XM_047421117.1:c.1517A>C H [CAT] > P [CCT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X2 XP_047277073.1:p.His506Pro H (His) > P (Pro) Missense Variant
DMTF1 transcript variant X23 XM_047421117.1:c.1517A>G H [CAT] > R [CGT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X2 XP_047277073.1:p.His506Arg H (His) > R (Arg) Missense Variant
DMTF1 transcript variant X24 XM_047421118.1:c.1517A>C H [CAT] > P [CCT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X2 XP_047277074.1:p.His506Pro H (His) > P (Pro) Missense Variant
DMTF1 transcript variant X24 XM_047421118.1:c.1517A>G H [CAT] > R [CGT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X2 XP_047277074.1:p.His506Arg H (His) > R (Arg) Missense Variant
DMTF1 transcript variant X25 XM_047421119.1:c.1517A>C H [CAT] > P [CCT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X2 XP_047277075.1:p.His506Pro H (His) > P (Pro) Missense Variant
DMTF1 transcript variant X25 XM_047421119.1:c.1517A>G H [CAT] > R [CGT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X2 XP_047277075.1:p.His506Arg H (His) > R (Arg) Missense Variant
DMTF1 transcript variant X26 XM_047421120.1:c.1517A>C H [CAT] > P [CCT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X2 XP_047277076.1:p.His506Pro H (His) > P (Pro) Missense Variant
DMTF1 transcript variant X26 XM_047421120.1:c.1517A>G H [CAT] > R [CGT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X2 XP_047277076.1:p.His506Arg H (His) > R (Arg) Missense Variant
DMTF1 transcript variant X27 XM_047421121.1:c.1517A>C H [CAT] > P [CCT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X2 XP_047277077.1:p.His506Pro H (His) > P (Pro) Missense Variant
DMTF1 transcript variant X27 XM_047421121.1:c.1517A>G H [CAT] > R [CGT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X2 XP_047277077.1:p.His506Arg H (His) > R (Arg) Missense Variant
DMTF1 transcript variant X28 XM_047421122.1:c.1640A>C H [CAT] > P [CCT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X3 XP_047277078.1:p.His547Pro H (His) > P (Pro) Missense Variant
DMTF1 transcript variant X28 XM_047421122.1:c.1640A>G H [CAT] > R [CGT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X3 XP_047277078.1:p.His547Arg H (His) > R (Arg) Missense Variant
DMTF1 transcript variant X29 XM_047421123.1:c.1640A>C H [CAT] > P [CCT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X3 XP_047277079.1:p.His547Pro H (His) > P (Pro) Missense Variant
DMTF1 transcript variant X29 XM_047421123.1:c.1640A>G H [CAT] > R [CGT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X3 XP_047277079.1:p.His547Arg H (His) > R (Arg) Missense Variant
DMTF1 transcript variant X30 XM_047421124.1:c.1640A>C H [CAT] > P [CCT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X3 XP_047277080.1:p.His547Pro H (His) > P (Pro) Missense Variant
DMTF1 transcript variant X30 XM_047421124.1:c.1640A>G H [CAT] > R [CGT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X3 XP_047277080.1:p.His547Arg H (His) > R (Arg) Missense Variant
DMTF1 transcript variant X31 XM_047421125.1:c.1640A>C H [CAT] > P [CCT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X3 XP_047277081.1:p.His547Pro H (His) > P (Pro) Missense Variant
DMTF1 transcript variant X31 XM_047421125.1:c.1640A>G H [CAT] > R [CGT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X3 XP_047277081.1:p.His547Arg H (His) > R (Arg) Missense Variant
DMTF1 transcript variant X32 XM_047421126.1:c.1640A>C H [CAT] > P [CCT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X3 XP_047277082.1:p.His547Pro H (His) > P (Pro) Missense Variant
DMTF1 transcript variant X32 XM_047421126.1:c.1640A>G H [CAT] > R [CGT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X3 XP_047277082.1:p.His547Arg H (His) > R (Arg) Missense Variant
DMTF1 transcript variant X37 XM_047421127.1:c.1640A>C H [CAT] > P [CCT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X3 XP_047277083.1:p.His547Pro H (His) > P (Pro) Missense Variant
DMTF1 transcript variant X37 XM_047421127.1:c.1640A>G H [CAT] > R [CGT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X3 XP_047277083.1:p.His547Arg H (His) > R (Arg) Missense Variant
DMTF1 transcript variant X34 XM_047421128.1:c.1640A>C H [CAT] > P [CCT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X3 XP_047277084.1:p.His547Pro H (His) > P (Pro) Missense Variant
DMTF1 transcript variant X34 XM_047421128.1:c.1640A>G H [CAT] > R [CGT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X3 XP_047277084.1:p.His547Arg H (His) > R (Arg) Missense Variant
DMTF1 transcript variant X48 XM_047421129.1:c.1640A>C H [CAT] > P [CCT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X3 XP_047277085.1:p.His547Pro H (His) > P (Pro) Missense Variant
DMTF1 transcript variant X48 XM_047421129.1:c.1640A>G H [CAT] > R [CGT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X3 XP_047277085.1:p.His547Arg H (His) > R (Arg) Missense Variant
DMTF1 transcript variant X35 XM_047421130.1:c.1640A>C H [CAT] > P [CCT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X3 XP_047277086.1:p.His547Pro H (His) > P (Pro) Missense Variant
DMTF1 transcript variant X35 XM_047421130.1:c.1640A>G H [CAT] > R [CGT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X3 XP_047277086.1:p.His547Arg H (His) > R (Arg) Missense Variant
DMTF1 transcript variant X36 XM_047421131.1:c.1640A>C H [CAT] > P [CCT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X3 XP_047277087.1:p.His547Pro H (His) > P (Pro) Missense Variant
DMTF1 transcript variant X36 XM_047421131.1:c.1640A>G H [CAT] > R [CGT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X3 XP_047277087.1:p.His547Arg H (His) > R (Arg) Missense Variant
DMTF1 transcript variant X38 XM_047421132.1:c.1463A>C H [CAT] > P [CCT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X4 XP_047277088.1:p.His488Pro H (His) > P (Pro) Missense Variant
DMTF1 transcript variant X38 XM_047421132.1:c.1463A>G H [CAT] > R [CGT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X4 XP_047277088.1:p.His488Arg H (His) > R (Arg) Missense Variant
DMTF1 transcript variant X39 XM_017012870.3:c.1517A>C H [CAT] > P [CCT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X5 XP_016868359.1:p.His506Pro H (His) > P (Pro) Missense Variant
DMTF1 transcript variant X39 XM_017012870.3:c.1517A>G H [CAT] > R [CGT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X5 XP_016868359.1:p.His506Arg H (His) > R (Arg) Missense Variant
DMTF1 transcript variant X40 XM_047421133.1:c.1517A>C H [CAT] > P [CCT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X5 XP_047277089.1:p.His506Pro H (His) > P (Pro) Missense Variant
DMTF1 transcript variant X40 XM_047421133.1:c.1517A>G H [CAT] > R [CGT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X5 XP_047277089.1:p.His506Arg H (His) > R (Arg) Missense Variant
DMTF1 transcript variant X41 XM_047421134.1:c.1517A>C H [CAT] > P [CCT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X5 XP_047277090.1:p.His506Pro H (His) > P (Pro) Missense Variant
DMTF1 transcript variant X41 XM_047421134.1:c.1517A>G H [CAT] > R [CGT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X5 XP_047277090.1:p.His506Arg H (His) > R (Arg) Missense Variant
DMTF1 transcript variant X42 XM_047421135.1:c.1463A>C H [CAT] > P [CCT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X6 XP_047277091.1:p.His488Pro H (His) > P (Pro) Missense Variant
DMTF1 transcript variant X42 XM_047421135.1:c.1463A>G H [CAT] > R [CGT] Coding Sequence Variant
cyclin-D-binding Myb-like transcription factor 1 isoform X6 XP_047277091.1:p.His488Arg H (His) > R (Arg) Missense Variant
Help

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
Help

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 A= C G
GRCh38.p14 chr 7 NC_000007.14:g.87193343= NC_000007.14:g.87193343A>C NC_000007.14:g.87193343A>G
GRCh37.p13 chr 7 NC_000007.13:g.86822659= NC_000007.13:g.86822659A>C NC_000007.13:g.86822659A>G
DMTF1 RefSeqGene NG_029536.1:g.45983= NG_029536.1:g.45983A>C NG_029536.1:g.45983A>G
DMTF1 transcript variant 1 NM_021145.4:c.1640= NM_021145.4:c.1640A>C NM_021145.4:c.1640A>G
DMTF1 transcript variant 1 NM_021145.3:c.1640= NM_021145.3:c.1640A>C NM_021145.3:c.1640A>G
DMTF1 transcript variant 4 NR_024549.2:n.2085= NR_024549.2:n.2085A>C NR_024549.2:n.2085A>G
DMTF1 transcript variant 4 NR_024549.1:n.2177= NR_024549.1:n.2177A>C NR_024549.1:n.2177A>G
DMTF1 transcript variant 5 NR_024550.2:n.2046= NR_024550.2:n.2046A>C NR_024550.2:n.2046A>G
DMTF1 transcript variant 5 NR_024550.1:n.2138= NR_024550.1:n.2138A>C NR_024550.1:n.2138A>G
DMTF1 transcript variant 2 NM_001142327.2:c.1640= NM_001142327.2:c.1640A>C NM_001142327.2:c.1640A>G
DMTF1 transcript variant 2 NM_001142327.1:c.1640= NM_001142327.1:c.1640A>C NM_001142327.1:c.1640A>G
DMTF1 transcript variant 3 NM_001142326.2:c.1376= NM_001142326.2:c.1376A>C NM_001142326.2:c.1376A>G
DMTF1 transcript variant 3 NM_001142326.1:c.1376= NM_001142326.1:c.1376A>C NM_001142326.1:c.1376A>G
DMTF1 transcript variant X19 XM_011516739.4:c.1517= XM_011516739.4:c.1517A>C XM_011516739.4:c.1517A>G
DMTF1 transcript variant X17 XM_011516739.3:c.1517= XM_011516739.3:c.1517A>C XM_011516739.3:c.1517A>G
DMTF1 transcript variant X5 XM_011516739.2:c.1517= XM_011516739.2:c.1517A>C XM_011516739.2:c.1517A>G
DMTF1 transcript variant X11 XM_011516739.1:c.1517= XM_011516739.1:c.1517A>C XM_011516739.1:c.1517A>G
DMTF1 transcript variant X39 XM_017012870.3:c.1517= XM_017012870.3:c.1517A>C XM_017012870.3:c.1517A>G
DMTF1 transcript variant X24 XM_017012870.2:c.1517= XM_017012870.2:c.1517A>C XM_017012870.2:c.1517A>G
DMTF1 transcript variant X9 XM_017012870.1:c.1517= XM_017012870.1:c.1517A>C XM_017012870.1:c.1517A>G
DMTF1 transcript variant X6 XM_024447017.2:c.1640= XM_024447017.2:c.1640A>C XM_024447017.2:c.1640A>G
DMTF1 transcript variant X9 XM_024447017.1:c.1640= XM_024447017.1:c.1640A>C XM_024447017.1:c.1640A>G
DMTF1 transcript variant X14 XM_024447019.2:c.1640= XM_024447019.2:c.1640A>C XM_024447019.2:c.1640A>G
DMTF1 transcript variant X12 XM_024447019.1:c.1640= XM_024447019.1:c.1640A>C XM_024447019.1:c.1640A>G
DMTF1 transcript variant X16 XM_024447021.2:c.1640= XM_024447021.2:c.1640A>C XM_024447021.2:c.1640A>G
DMTF1 transcript variant X14 XM_024447021.1:c.1640= XM_024447021.1:c.1640A>C XM_024447021.1:c.1640A>G
DMTF1 transcript variant X5 XM_024447018.2:c.1640= XM_024447018.2:c.1640A>C XM_024447018.2:c.1640A>G
DMTF1 transcript variant X10 XM_024447018.1:c.1640= XM_024447018.1:c.1640A>C XM_024447018.1:c.1640A>G
DMTF1 transcript variant X9 XM_024447022.2:c.1640= XM_024447022.2:c.1640A>C XM_024447022.2:c.1640A>G
DMTF1 transcript variant X15 XM_024447022.1:c.1640= XM_024447022.1:c.1640A>C XM_024447022.1:c.1640A>G
DMTF1 transcript variant X3 XM_024447016.2:c.1640= XM_024447016.2:c.1640A>C XM_024447016.2:c.1640A>G
DMTF1 transcript variant X8 XM_024447016.1:c.1640= XM_024447016.1:c.1640A>C XM_024447016.1:c.1640A>G
DMTF1 transcript variant X4 XM_024447020.2:c.1640= XM_024447020.2:c.1640A>C XM_024447020.2:c.1640A>G
DMTF1 transcript variant X13 XM_024447020.1:c.1640= XM_024447020.1:c.1640A>C XM_024447020.1:c.1640A>G
DMTF1 transcript variant X43 XM_047421099.1:c.1640= XM_047421099.1:c.1640A>C XM_047421099.1:c.1640A>G
DMTF1 transcript variant X10 XM_047421106.1:c.1640= XM_047421106.1:c.1640A>C XM_047421106.1:c.1640A>G
DMTF1 transcript variant X12 XM_047421108.1:c.1640= XM_047421108.1:c.1640A>C XM_047421108.1:c.1640A>G
DMTF1 transcript variant X11 XM_047421107.1:c.1640= XM_047421107.1:c.1640A>C XM_047421107.1:c.1640A>G
DMTF1 transcript variant X15 XM_047421112.1:c.1640= XM_047421112.1:c.1640A>C XM_047421112.1:c.1640A>G
DMTF1 transcript variant X13 XM_047421111.1:c.1640= XM_047421111.1:c.1640A>C XM_047421111.1:c.1640A>G
DMTF1 transcript variant X45 XM_047421109.1:c.1640= XM_047421109.1:c.1640A>C XM_047421109.1:c.1640A>G
DMTF1 transcript variant X8 XM_047421102.1:c.1640= XM_047421102.1:c.1640A>C XM_047421102.1:c.1640A>G
DMTF1 transcript variant X46 XM_047421110.1:c.1640= XM_047421110.1:c.1640A>C XM_047421110.1:c.1640A>G
DMTF1 transcript variant X29 XM_047421123.1:c.1640= XM_047421123.1:c.1640A>C XM_047421123.1:c.1640A>G
DMTF1 transcript variant X30 XM_047421124.1:c.1640= XM_047421124.1:c.1640A>C XM_047421124.1:c.1640A>G
DMTF1 transcript variant X47 XM_047421113.1:c.1517= XM_047421113.1:c.1517A>C XM_047421113.1:c.1517A>G
DMTF1 transcript variant X48 XM_047421129.1:c.1640= XM_047421129.1:c.1640A>C XM_047421129.1:c.1640A>G
DMTF1 transcript variant X20 XM_047421114.1:c.1517= XM_047421114.1:c.1517A>C XM_047421114.1:c.1517A>G
DMTF1 transcript variant X21 XM_047421115.1:c.1517= XM_047421115.1:c.1517A>C XM_047421115.1:c.1517A>G
DMTF1 transcript variant X7 XM_047421101.1:c.1640= XM_047421101.1:c.1640A>C XM_047421101.1:c.1640A>G
DMTF1 transcript variant X2 XM_047421100.1:c.1640= XM_047421100.1:c.1640A>C XM_047421100.1:c.1640A>G
DMTF1 transcript variant X17 XM_047421104.1:c.1640= XM_047421104.1:c.1640A>C XM_047421104.1:c.1640A>G
DMTF1 transcript variant X18 XM_047421105.1:c.1640= XM_047421105.1:c.1640A>C XM_047421105.1:c.1640A>G
DMTF1 transcript variant X31 XM_047421125.1:c.1640= XM_047421125.1:c.1640A>C XM_047421125.1:c.1640A>G
DMTF1 transcript variant X37 XM_047421127.1:c.1640= XM_047421127.1:c.1640A>C XM_047421127.1:c.1640A>G
DMTF1 transcript variant X26 XM_047421120.1:c.1517= XM_047421120.1:c.1517A>C XM_047421120.1:c.1517A>G
DMTF1 transcript variant X27 XM_047421121.1:c.1517= XM_047421121.1:c.1517A>C XM_047421121.1:c.1517A>G
DMTF1 transcript variant X22 XM_047421116.1:c.1517= XM_047421116.1:c.1517A>C XM_047421116.1:c.1517A>G
DMTF1 transcript variant X35 XM_047421130.1:c.1640= XM_047421130.1:c.1640A>C XM_047421130.1:c.1640A>G
DMTF1 transcript variant X44 XM_047421103.1:c.1640= XM_047421103.1:c.1640A>C XM_047421103.1:c.1640A>G
DMTF1 transcript variant X36 XM_047421131.1:c.1640= XM_047421131.1:c.1640A>C XM_047421131.1:c.1640A>G
DMTF1 transcript variant X1 XM_011516737.1:c.1640= XM_011516737.1:c.1640A>C XM_011516737.1:c.1640A>G
DMTF1 transcript variant X25 XM_047421119.1:c.1517= XM_047421119.1:c.1517A>C XM_047421119.1:c.1517A>G
DMTF1 transcript variant X32 XM_047421126.1:c.1640= XM_047421126.1:c.1640A>C XM_047421126.1:c.1640A>G
DMTF1 transcript variant X24 XM_047421118.1:c.1517= XM_047421118.1:c.1517A>C XM_047421118.1:c.1517A>G
DMTF1 transcript variant X33 XM_017012868.1:c.1640= XM_017012868.1:c.1640A>C XM_017012868.1:c.1640A>G
DMTF1 transcript variant X23 XM_047421117.1:c.1517= XM_047421117.1:c.1517A>C XM_047421117.1:c.1517A>G
DMTF1 transcript variant X40 XM_047421133.1:c.1517= XM_047421133.1:c.1517A>C XM_047421133.1:c.1517A>G
DMTF1 transcript variant X34 XM_047421128.1:c.1640= XM_047421128.1:c.1640A>C XM_047421128.1:c.1640A>G
DMTF1 transcript variant X41 XM_047421134.1:c.1517= XM_047421134.1:c.1517A>C XM_047421134.1:c.1517A>G
DMTF1 transcript variant X28 XM_047421122.1:c.1640= XM_047421122.1:c.1640A>C XM_047421122.1:c.1640A>G
DMTF1 transcript variant X38 XM_047421132.1:c.1463= XM_047421132.1:c.1463A>C XM_047421132.1:c.1463A>G
DMTF1 transcript variant X42 XM_047421135.1:c.1463= XM_047421135.1:c.1463A>C XM_047421135.1:c.1463A>G
cyclin-D-binding Myb-like transcription factor 1 isoform a NP_066968.3:p.His547= NP_066968.3:p.His547Pro NP_066968.3:p.His547Arg
cyclin-D-binding Myb-like transcription factor 1 isoform a NP_001135799.1:p.His547= NP_001135799.1:p.His547Pro NP_001135799.1:p.His547Arg
cyclin-D-binding Myb-like transcription factor 1 isoform b NP_001135798.1:p.His459= NP_001135798.1:p.His459Pro NP_001135798.1:p.His459Arg
cyclin-D-binding Myb-like transcription factor 1 isoform X2 XP_011515041.1:p.His506= XP_011515041.1:p.His506Pro XP_011515041.1:p.His506Arg
cyclin-D-binding Myb-like transcription factor 1 isoform X5 XP_016868359.1:p.His506= XP_016868359.1:p.His506Pro XP_016868359.1:p.His506Arg
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_024302785.1:p.His547= XP_024302785.1:p.His547Pro XP_024302785.1:p.His547Arg
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_024302787.1:p.His547= XP_024302787.1:p.His547Pro XP_024302787.1:p.His547Arg
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_024302789.1:p.His547= XP_024302789.1:p.His547Pro XP_024302789.1:p.His547Arg
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_024302786.1:p.His547= XP_024302786.1:p.His547Pro XP_024302786.1:p.His547Arg
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_024302790.1:p.His547= XP_024302790.1:p.His547Pro XP_024302790.1:p.His547Arg
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_024302784.1:p.His547= XP_024302784.1:p.His547Pro XP_024302784.1:p.His547Arg
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_024302788.1:p.His547= XP_024302788.1:p.His547Pro XP_024302788.1:p.His547Arg
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_047277055.1:p.His547= XP_047277055.1:p.His547Pro XP_047277055.1:p.His547Arg
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_047277062.1:p.His547= XP_047277062.1:p.His547Pro XP_047277062.1:p.His547Arg
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_047277064.1:p.His547= XP_047277064.1:p.His547Pro XP_047277064.1:p.His547Arg
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_047277063.1:p.His547= XP_047277063.1:p.His547Pro XP_047277063.1:p.His547Arg
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_047277068.1:p.His547= XP_047277068.1:p.His547Pro XP_047277068.1:p.His547Arg
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_047277067.1:p.His547= XP_047277067.1:p.His547Pro XP_047277067.1:p.His547Arg
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_047277065.1:p.His547= XP_047277065.1:p.His547Pro XP_047277065.1:p.His547Arg
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_047277058.1:p.His547= XP_047277058.1:p.His547Pro XP_047277058.1:p.His547Arg
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_047277066.1:p.His547= XP_047277066.1:p.His547Pro XP_047277066.1:p.His547Arg
cyclin-D-binding Myb-like transcription factor 1 isoform X3 XP_047277079.1:p.His547= XP_047277079.1:p.His547Pro XP_047277079.1:p.His547Arg
cyclin-D-binding Myb-like transcription factor 1 isoform X3 XP_047277080.1:p.His547= XP_047277080.1:p.His547Pro XP_047277080.1:p.His547Arg
cyclin-D-binding Myb-like transcription factor 1 isoform X2 XP_047277069.1:p.His506= XP_047277069.1:p.His506Pro XP_047277069.1:p.His506Arg
cyclin-D-binding Myb-like transcription factor 1 isoform X3 XP_047277085.1:p.His547= XP_047277085.1:p.His547Pro XP_047277085.1:p.His547Arg
cyclin-D-binding Myb-like transcription factor 1 isoform X2 XP_047277070.1:p.His506= XP_047277070.1:p.His506Pro XP_047277070.1:p.His506Arg
cyclin-D-binding Myb-like transcription factor 1 isoform X2 XP_047277071.1:p.His506= XP_047277071.1:p.His506Pro XP_047277071.1:p.His506Arg
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_047277057.1:p.His547= XP_047277057.1:p.His547Pro XP_047277057.1:p.His547Arg
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_047277056.1:p.His547= XP_047277056.1:p.His547Pro XP_047277056.1:p.His547Arg
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_047277060.1:p.His547= XP_047277060.1:p.His547Pro XP_047277060.1:p.His547Arg
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_047277061.1:p.His547= XP_047277061.1:p.His547Pro XP_047277061.1:p.His547Arg
cyclin-D-binding Myb-like transcription factor 1 isoform X3 XP_047277081.1:p.His547= XP_047277081.1:p.His547Pro XP_047277081.1:p.His547Arg
cyclin-D-binding Myb-like transcription factor 1 isoform X3 XP_047277083.1:p.His547= XP_047277083.1:p.His547Pro XP_047277083.1:p.His547Arg
cyclin-D-binding Myb-like transcription factor 1 isoform X2 XP_047277076.1:p.His506= XP_047277076.1:p.His506Pro XP_047277076.1:p.His506Arg
cyclin-D-binding Myb-like transcription factor 1 isoform X2 XP_047277077.1:p.His506= XP_047277077.1:p.His506Pro XP_047277077.1:p.His506Arg
cyclin-D-binding Myb-like transcription factor 1 isoform X2 XP_047277072.1:p.His506= XP_047277072.1:p.His506Pro XP_047277072.1:p.His506Arg
cyclin-D-binding Myb-like transcription factor 1 isoform X3 XP_047277086.1:p.His547= XP_047277086.1:p.His547Pro XP_047277086.1:p.His547Arg
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_047277059.1:p.His547= XP_047277059.1:p.His547Pro XP_047277059.1:p.His547Arg
cyclin-D-binding Myb-like transcription factor 1 isoform X3 XP_047277087.1:p.His547= XP_047277087.1:p.His547Pro XP_047277087.1:p.His547Arg
cyclin-D-binding Myb-like transcription factor 1 isoform X1 XP_011515039.1:p.His547= XP_011515039.1:p.His547Pro XP_011515039.1:p.His547Arg
cyclin-D-binding Myb-like transcription factor 1 isoform X2 XP_047277075.1:p.His506= XP_047277075.1:p.His506Pro XP_047277075.1:p.His506Arg
cyclin-D-binding Myb-like transcription factor 1 isoform X3 XP_047277082.1:p.His547= XP_047277082.1:p.His547Pro XP_047277082.1:p.His547Arg
cyclin-D-binding Myb-like transcription factor 1 isoform X2 XP_047277074.1:p.His506= XP_047277074.1:p.His506Pro XP_047277074.1:p.His506Arg
cyclin-D-binding Myb-like transcription factor 1 isoform X3 XP_016868357.1:p.His547= XP_016868357.1:p.His547Pro XP_016868357.1:p.His547Arg
cyclin-D-binding Myb-like transcription factor 1 isoform X2 XP_047277073.1:p.His506= XP_047277073.1:p.His506Pro XP_047277073.1:p.His506Arg
cyclin-D-binding Myb-like transcription factor 1 isoform X5 XP_047277089.1:p.His506= XP_047277089.1:p.His506Pro XP_047277089.1:p.His506Arg
cyclin-D-binding Myb-like transcription factor 1 isoform X3 XP_047277084.1:p.His547= XP_047277084.1:p.His547Pro XP_047277084.1:p.His547Arg
cyclin-D-binding Myb-like transcription factor 1 isoform X5 XP_047277090.1:p.His506= XP_047277090.1:p.His506Pro XP_047277090.1:p.His506Arg
cyclin-D-binding Myb-like transcription factor 1 isoform X3 XP_047277078.1:p.His547= XP_047277078.1:p.His547Pro XP_047277078.1:p.His547Arg
cyclin-D-binding Myb-like transcription factor 1 isoform X4 XP_047277088.1:p.His488= XP_047277088.1:p.His488Pro XP_047277088.1:p.His488Arg
cyclin-D-binding Myb-like transcription factor 1 isoform X6 XP_047277091.1:p.His488= XP_047277091.1:p.His488Pro XP_047277091.1:p.His488Arg
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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#.

2 SubSNP, 2 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2736535781 Nov 08, 2017 (151)
2 KOGIC ss3962024181 Apr 26, 2020 (154)
3 gnomAD - Exomes NC_000007.13 - 86822659 Jul 13, 2019 (153)
4 Korean Genome Project NC_000007.14 - 87193343 Apr 26, 2020 (154)
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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
5697987, ss2736535781 NC_000007.13:86822658:A:C NC_000007.14:87193342:A:C (self)
18402182, ss3962024181 NC_000007.14:87193342:A:G NC_000007.14:87193342:A:G (self)
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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 rs1489551816

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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
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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