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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.

rs1490047425

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr12:57295500 (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
G>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000004 (1/264690, TOPMED)
T=0.000013 (2/157192, GnomAD_exome)
C=0.00000 (0/14050, ALFA) (+ 1 more)
T=0.00000 (0/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
R3HDM2 : Missense Variant
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 14050 G=1.00000 C=0.00000, T=0.00000 1.0 0.0 0.0 N/A
European Sub 9690 G=1.0000 C=0.0000, T=0.0000 1.0 0.0 0.0 N/A
African Sub 2898 G=1.0000 C=0.0000, T=0.0000 1.0 0.0 0.0 N/A
African Others Sub 114 G=1.000 C=0.000, T=0.000 1.0 0.0 0.0 N/A
African American Sub 2784 G=1.0000 C=0.0000, T=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 G=1.000 C=0.000, T=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 G=1.00 C=0.00, T=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 G=1.00 C=0.00, T=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 G=1.000 C=0.000, T=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 G=1.000 C=0.000, T=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 G=1.00 C=0.00, T=0.00 1.0 0.0 0.0 N/A
Other Sub 496 G=1.000 C=0.000, T=0.000 1.0 0.0 0.0 N/A


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
TopMed Global Study-wide 264690 G=0.999996 T=0.000004
gnomAD - Exomes Global Study-wide 157192 G=0.999987 T=0.000013
gnomAD - Exomes European Sub 77804 G=1.00000 T=0.00000
gnomAD - Exomes Asian Sub 33668 G=0.99997 T=0.00003
gnomAD - Exomes American Sub 24670 G=1.00000 T=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 8506 G=1.0000 T=0.0000
gnomAD - Exomes African Sub 8106 G=0.9999 T=0.0001
gnomAD - Exomes Other Sub 4438 G=1.0000 T=0.0000
Allele Frequency Aggregator Total Global 14050 G=1.00000 C=0.00000, T=0.00000
Allele Frequency Aggregator European Sub 9690 G=1.0000 C=0.0000, T=0.0000
Allele Frequency Aggregator African Sub 2898 G=1.0000 C=0.0000, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 G=1.000 C=0.000, T=0.000
Allele Frequency Aggregator Other Sub 496 G=1.000 C=0.000, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 G=1.000 C=0.000, T=0.000
Allele Frequency Aggregator Asian Sub 112 G=1.000 C=0.000, T=0.000
Allele Frequency Aggregator South Asian Sub 98 G=1.00 C=0.00, T=0.00
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 12 NC_000012.12:g.57295500G>C
GRCh38.p14 chr 12 NC_000012.12:g.57295500G>T
GRCh37.p13 chr 12 NC_000012.11:g.57689283G>C
GRCh37.p13 chr 12 NC_000012.11:g.57689283G>T
Gene: R3HDM2, R3H domain containing 2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
R3HDM2 transcript variant 13 NM_001351213.2:c.709C>G Q [CAG] > E [GAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform 9 NP_001338142.1:p.Gln237Glu Q (Gln) > E (Glu) Missense Variant
R3HDM2 transcript variant 13 NM_001351213.2:c.709C>A Q [CAG] > K [AAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform 9 NP_001338142.1:p.Gln237Lys Q (Gln) > K (Lys) Missense Variant
R3HDM2 transcript variant 15 NM_001351215.2:c.709C>G Q [CAG] > E [GAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform 9 NP_001338144.1:p.Gln237Glu Q (Gln) > E (Glu) Missense Variant
R3HDM2 transcript variant 15 NM_001351215.2:c.709C>A Q [CAG] > K [AAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform 9 NP_001338144.1:p.Gln237Lys Q (Gln) > K (Lys) Missense Variant
R3HDM2 transcript variant 12 NM_001351212.2:c.709C>G Q [CAG] > E [GAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform 9 NP_001338141.1:p.Gln237Glu Q (Gln) > E (Glu) Missense Variant
R3HDM2 transcript variant 12 NM_001351212.2:c.709C>A Q [CAG] > K [AAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform 9 NP_001338141.1:p.Gln237Lys Q (Gln) > K (Lys) Missense Variant
R3HDM2 transcript variant 16 NM_001351216.2:c.649C>G Q [CAG] > E [GAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform 10 NP_001338145.1:p.Gln217Glu Q (Gln) > E (Glu) Missense Variant
R3HDM2 transcript variant 16 NM_001351216.2:c.649C>A Q [CAG] > K [AAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform 10 NP_001338145.1:p.Gln217Lys Q (Gln) > K (Lys) Missense Variant
R3HDM2 transcript variant 10 NM_001351209.2:c.709C>G Q [CAG] > E [GAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform 7 NP_001338138.1:p.Gln237Glu Q (Gln) > E (Glu) Missense Variant
R3HDM2 transcript variant 10 NM_001351209.2:c.709C>A Q [CAG] > K [AAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform 7 NP_001338138.1:p.Gln237Lys Q (Gln) > K (Lys) Missense Variant
R3HDM2 transcript variant 2 NM_001330122.2:c.709C>G Q [CAG] > E [GAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform 1 NP_001317051.1:p.Gln237Glu Q (Gln) > E (Glu) Missense Variant
R3HDM2 transcript variant 2 NM_001330122.2:c.709C>A Q [CAG] > K [AAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform 1 NP_001317051.1:p.Gln237Lys Q (Gln) > K (Lys) Missense Variant
R3HDM2 transcript variant 17 NM_001351217.2:c.709C>G Q [CAG] > E [GAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform 11 NP_001338146.1:p.Gln237Glu Q (Gln) > E (Glu) Missense Variant
R3HDM2 transcript variant 17 NM_001351217.2:c.709C>A Q [CAG] > K [AAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform 11 NP_001338146.1:p.Gln237Lys Q (Gln) > K (Lys) Missense Variant
R3HDM2 transcript variant 1 NM_001330121.2:c.709C>G Q [CAG] > E [GAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform 1 NP_001317050.1:p.Gln237Glu Q (Gln) > E (Glu) Missense Variant
R3HDM2 transcript variant 1 NM_001330121.2:c.709C>A Q [CAG] > K [AAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform 1 NP_001317050.1:p.Gln237Lys Q (Gln) > K (Lys) Missense Variant
R3HDM2 transcript variant 4 NM_001330123.2:c.733C>G Q [CAG] > E [GAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform 3 NP_001317052.1:p.Gln245Glu Q (Gln) > E (Glu) Missense Variant
R3HDM2 transcript variant 4 NM_001330123.2:c.733C>A Q [CAG] > K [AAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform 3 NP_001317052.1:p.Gln245Lys Q (Gln) > K (Lys) Missense Variant
R3HDM2 transcript variant 7 NM_001351206.2:c.709C>G Q [CAG] > E [GAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform 4 NP_001338135.1:p.Gln237Glu Q (Gln) > E (Glu) Missense Variant
R3HDM2 transcript variant 7 NM_001351206.2:c.709C>A Q [CAG] > K [AAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform 4 NP_001338135.1:p.Gln237Lys Q (Gln) > K (Lys) Missense Variant
R3HDM2 transcript variant 18 NM_001351218.2:c.709C>G Q [CAG] > E [GAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform 11 NP_001338147.1:p.Gln237Glu Q (Gln) > E (Glu) Missense Variant
R3HDM2 transcript variant 18 NM_001351218.2:c.709C>A Q [CAG] > K [AAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform 11 NP_001338147.1:p.Gln237Lys Q (Gln) > K (Lys) Missense Variant
R3HDM2 transcript variant 9 NM_001351208.2:c.709C>G Q [CAG] > E [GAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform 6 NP_001338137.1:p.Gln237Glu Q (Gln) > E (Glu) Missense Variant
R3HDM2 transcript variant 9 NM_001351208.2:c.709C>A Q [CAG] > K [AAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform 6 NP_001338137.1:p.Gln237Lys Q (Gln) > K (Lys) Missense Variant
R3HDM2 transcript variant 5 NM_001351204.2:c.709C>G Q [CAG] > E [GAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform 4 NP_001338133.1:p.Gln237Glu Q (Gln) > E (Glu) Missense Variant
R3HDM2 transcript variant 5 NM_001351204.2:c.709C>A Q [CAG] > K [AAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform 4 NP_001338133.1:p.Gln237Lys Q (Gln) > K (Lys) Missense Variant
R3HDM2 transcript variant 14 NM_001351214.2:c.709C>G Q [CAG] > E [GAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform 9 NP_001338143.1:p.Gln237Glu Q (Gln) > E (Glu) Missense Variant
R3HDM2 transcript variant 14 NM_001351214.2:c.709C>A Q [CAG] > K [AAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform 9 NP_001338143.1:p.Gln237Lys Q (Gln) > K (Lys) Missense Variant
R3HDM2 transcript variant 6 NM_001351205.2:c.709C>G Q [CAG] > E [GAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform 4 NP_001338134.1:p.Gln237Glu Q (Gln) > E (Glu) Missense Variant
R3HDM2 transcript variant 6 NM_001351205.2:c.709C>A Q [CAG] > K [AAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform 4 NP_001338134.1:p.Gln237Lys Q (Gln) > K (Lys) Missense Variant
R3HDM2 transcript variant 8 NM_001351207.2:c.733C>G Q [CAG] > E [GAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform 5 NP_001338136.1:p.Gln245Glu Q (Gln) > E (Glu) Missense Variant
R3HDM2 transcript variant 8 NM_001351207.2:c.733C>A Q [CAG] > K [AAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform 5 NP_001338136.1:p.Gln245Lys Q (Gln) > K (Lys) Missense Variant
R3HDM2 transcript variant 11 NM_001351211.2:c.733C>G Q [CAG] > E [GAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform 8 NP_001338140.1:p.Gln245Glu Q (Gln) > E (Glu) Missense Variant
R3HDM2 transcript variant 11 NM_001351211.2:c.733C>A Q [CAG] > K [AAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform 8 NP_001338140.1:p.Gln245Lys Q (Gln) > K (Lys) Missense Variant
R3HDM2 transcript variant 3 NM_014925.5:c.709C>G Q [CAG] > E [GAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform 2 NP_055740.3:p.Gln237Glu Q (Gln) > E (Glu) Missense Variant
R3HDM2 transcript variant 3 NM_014925.5:c.709C>A Q [CAG] > K [AAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform 2 NP_055740.3:p.Gln237Lys Q (Gln) > K (Lys) Missense Variant
R3HDM2 transcript variant 19 NM_001394031.1:c.709C>G Q [CAG] > E [GAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform 12 NP_001380960.1:p.Gln237Glu Q (Gln) > E (Glu) Missense Variant
R3HDM2 transcript variant 19 NM_001394031.1:c.709C>A Q [CAG] > K [AAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform 12 NP_001380960.1:p.Gln237Lys Q (Gln) > K (Lys) Missense Variant
R3HDM2 transcript variant X33 XM_047428535.1:c.-25= N/A 5 Prime UTR Variant
R3HDM2 transcript variant X34 XM_047428536.1:c. N/A Genic Upstream Transcript Variant
R3HDM2 transcript variant X1 XM_047428506.1:c.880C>G Q [CAG] > E [GAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X1 XP_047284462.1:p.Gln294Glu Q (Gln) > E (Glu) Missense Variant
R3HDM2 transcript variant X1 XM_047428506.1:c.880C>A Q [CAG] > K [AAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X1 XP_047284462.1:p.Gln294Lys Q (Gln) > K (Lys) Missense Variant
R3HDM2 transcript variant X2 XM_047428507.1:c.829C>G Q [CAG] > E [GAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X2 XP_047284463.1:p.Gln277Glu Q (Gln) > E (Glu) Missense Variant
R3HDM2 transcript variant X2 XM_047428507.1:c.829C>A Q [CAG] > K [AAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X2 XP_047284463.1:p.Gln277Lys Q (Gln) > K (Lys) Missense Variant
R3HDM2 transcript variant X3 XM_047428508.1:c.880C>G Q [CAG] > E [GAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X3 XP_047284464.1:p.Gln294Glu Q (Gln) > E (Glu) Missense Variant
R3HDM2 transcript variant X3 XM_047428508.1:c.880C>A Q [CAG] > K [AAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X3 XP_047284464.1:p.Gln294Lys Q (Gln) > K (Lys) Missense Variant
R3HDM2 transcript variant X4 XM_047428509.1:c.856C>G Q [CAG] > E [GAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X4 XP_047284465.1:p.Gln286Glu Q (Gln) > E (Glu) Missense Variant
R3HDM2 transcript variant X4 XM_047428509.1:c.856C>A Q [CAG] > K [AAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X4 XP_047284465.1:p.Gln286Lys Q (Gln) > K (Lys) Missense Variant
R3HDM2 transcript variant X5 XM_047428510.1:c.733C>G Q [CAG] > E [GAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X5 XP_047284466.1:p.Gln245Glu Q (Gln) > E (Glu) Missense Variant
R3HDM2 transcript variant X5 XM_047428510.1:c.733C>A Q [CAG] > K [AAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X5 XP_047284466.1:p.Gln245Lys Q (Gln) > K (Lys) Missense Variant
R3HDM2 transcript variant X6 XM_047428511.1:c.733C>G Q [CAG] > E [GAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X5 XP_047284467.1:p.Gln245Glu Q (Gln) > E (Glu) Missense Variant
R3HDM2 transcript variant X6 XM_047428511.1:c.733C>A Q [CAG] > K [AAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X5 XP_047284467.1:p.Gln245Lys Q (Gln) > K (Lys) Missense Variant
R3HDM2 transcript variant X7 XM_047428512.1:c.733C>G Q [CAG] > E [GAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X5 XP_047284468.1:p.Gln245Glu Q (Gln) > E (Glu) Missense Variant
R3HDM2 transcript variant X7 XM_047428512.1:c.733C>A Q [CAG] > K [AAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X5 XP_047284468.1:p.Gln245Lys Q (Gln) > K (Lys) Missense Variant
R3HDM2 transcript variant X8 XM_047428513.1:c.733C>G Q [CAG] > E [GAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X5 XP_047284469.1:p.Gln245Glu Q (Gln) > E (Glu) Missense Variant
R3HDM2 transcript variant X8 XM_047428513.1:c.733C>A Q [CAG] > K [AAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X5 XP_047284469.1:p.Gln245Lys Q (Gln) > K (Lys) Missense Variant
R3HDM2 transcript variant X9 XM_047428514.1:c.733C>G Q [CAG] > E [GAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X5 XP_047284470.1:p.Gln245Glu Q (Gln) > E (Glu) Missense Variant
R3HDM2 transcript variant X9 XM_047428514.1:c.733C>A Q [CAG] > K [AAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X5 XP_047284470.1:p.Gln245Lys Q (Gln) > K (Lys) Missense Variant
R3HDM2 transcript variant X10 XM_047428515.1:c.733C>G Q [CAG] > E [GAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X5 XP_047284471.1:p.Gln245Glu Q (Gln) > E (Glu) Missense Variant
R3HDM2 transcript variant X10 XM_047428515.1:c.733C>A Q [CAG] > K [AAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X5 XP_047284471.1:p.Gln245Lys Q (Gln) > K (Lys) Missense Variant
R3HDM2 transcript variant X11 XM_047428516.1:c.880C>G Q [CAG] > E [GAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X6 XP_047284472.1:p.Gln294Glu Q (Gln) > E (Glu) Missense Variant
R3HDM2 transcript variant X11 XM_047428516.1:c.880C>A Q [CAG] > K [AAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X6 XP_047284472.1:p.Gln294Lys Q (Gln) > K (Lys) Missense Variant
R3HDM2 transcript variant X12 XM_047428517.1:c.709C>G Q [CAG] > E [GAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X7 XP_047284473.1:p.Gln237Glu Q (Gln) > E (Glu) Missense Variant
R3HDM2 transcript variant X12 XM_047428517.1:c.709C>A Q [CAG] > K [AAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X7 XP_047284473.1:p.Gln237Lys Q (Gln) > K (Lys) Missense Variant
R3HDM2 transcript variant X13 XM_047428518.1:c.856C>G Q [CAG] > E [GAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X8 XP_047284474.1:p.Gln286Glu Q (Gln) > E (Glu) Missense Variant
R3HDM2 transcript variant X13 XM_047428518.1:c.856C>A Q [CAG] > K [AAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X8 XP_047284474.1:p.Gln286Lys Q (Gln) > K (Lys) Missense Variant
R3HDM2 transcript variant X14 XM_024448885.2:c.796C>G Q [CAG] > E [GAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X9 XP_024304653.2:p.Gln266Glu Q (Gln) > E (Glu) Missense Variant
R3HDM2 transcript variant X14 XM_024448885.2:c.796C>A Q [CAG] > K [AAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X9 XP_024304653.2:p.Gln266Lys Q (Gln) > K (Lys) Missense Variant
R3HDM2 transcript variant X15 XM_017019009.2:c.880C>G Q [CAG] > E [GAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X10 XP_016874498.2:p.Gln294Glu Q (Gln) > E (Glu) Missense Variant
R3HDM2 transcript variant X15 XM_017019009.2:c.880C>A Q [CAG] > K [AAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X10 XP_016874498.2:p.Gln294Lys Q (Gln) > K (Lys) Missense Variant
R3HDM2 transcript variant X16 XM_047428519.1:c.733C>G Q [CAG] > E [GAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X11 XP_047284475.1:p.Gln245Glu Q (Gln) > E (Glu) Missense Variant
R3HDM2 transcript variant X16 XM_047428519.1:c.733C>A Q [CAG] > K [AAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X11 XP_047284475.1:p.Gln245Lys Q (Gln) > K (Lys) Missense Variant
R3HDM2 transcript variant X17 XM_017019012.2:c.820C>G Q [CAG] > E [GAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X12 XP_016874501.2:p.Gln274Glu Q (Gln) > E (Glu) Missense Variant
R3HDM2 transcript variant X17 XM_017019012.2:c.820C>A Q [CAG] > K [AAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X12 XP_016874501.2:p.Gln274Lys Q (Gln) > K (Lys) Missense Variant
R3HDM2 transcript variant X18 XM_047428520.1:c.856C>G Q [CAG] > E [GAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X13 XP_047284476.1:p.Gln286Glu Q (Gln) > E (Glu) Missense Variant
R3HDM2 transcript variant X18 XM_047428520.1:c.856C>A Q [CAG] > K [AAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X13 XP_047284476.1:p.Gln286Lys Q (Gln) > K (Lys) Missense Variant
R3HDM2 transcript variant X19 XM_047428521.1:c.709C>G Q [CAG] > E [GAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X14 XP_047284477.1:p.Gln237Glu Q (Gln) > E (Glu) Missense Variant
R3HDM2 transcript variant X19 XM_047428521.1:c.709C>A Q [CAG] > K [AAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X14 XP_047284477.1:p.Gln237Lys Q (Gln) > K (Lys) Missense Variant
R3HDM2 transcript variant X20 XM_047428522.1:c.796C>G Q [CAG] > E [GAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X15 XP_047284478.1:p.Gln266Glu Q (Gln) > E (Glu) Missense Variant
R3HDM2 transcript variant X20 XM_047428522.1:c.796C>A Q [CAG] > K [AAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X15 XP_047284478.1:p.Gln266Lys Q (Gln) > K (Lys) Missense Variant
R3HDM2 transcript variant X21 XM_047428523.1:c.733C>G Q [CAG] > E [GAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X16 XP_047284479.1:p.Gln245Glu Q (Gln) > E (Glu) Missense Variant
R3HDM2 transcript variant X21 XM_047428523.1:c.733C>A Q [CAG] > K [AAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X16 XP_047284479.1:p.Gln245Lys Q (Gln) > K (Lys) Missense Variant
R3HDM2 transcript variant X22 XM_047428524.1:c.880C>G Q [CAG] > E [GAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X17 XP_047284480.1:p.Gln294Glu Q (Gln) > E (Glu) Missense Variant
R3HDM2 transcript variant X22 XM_047428524.1:c.880C>A Q [CAG] > K [AAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X17 XP_047284480.1:p.Gln294Lys Q (Gln) > K (Lys) Missense Variant
R3HDM2 transcript variant X23 XM_047428525.1:c.709C>G Q [CAG] > E [GAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X18 XP_047284481.1:p.Gln237Glu Q (Gln) > E (Glu) Missense Variant
R3HDM2 transcript variant X23 XM_047428525.1:c.709C>A Q [CAG] > K [AAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X18 XP_047284481.1:p.Gln237Lys Q (Gln) > K (Lys) Missense Variant
R3HDM2 transcript variant X24 XM_047428526.1:c.856C>G Q [CAG] > E [GAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X19 XP_047284482.1:p.Gln286Glu Q (Gln) > E (Glu) Missense Variant
R3HDM2 transcript variant X24 XM_047428526.1:c.856C>A Q [CAG] > K [AAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X19 XP_047284482.1:p.Gln286Lys Q (Gln) > K (Lys) Missense Variant
R3HDM2 transcript variant X25 XM_047428527.1:c.733C>G Q [CAG] > E [GAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X20 XP_047284483.1:p.Gln245Glu Q (Gln) > E (Glu) Missense Variant
R3HDM2 transcript variant X25 XM_047428527.1:c.733C>A Q [CAG] > K [AAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X20 XP_047284483.1:p.Gln245Lys Q (Gln) > K (Lys) Missense Variant
R3HDM2 transcript variant X26 XM_017019020.2:c.820C>G Q [CAG] > E [GAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X21 XP_016874509.2:p.Gln274Glu Q (Gln) > E (Glu) Missense Variant
R3HDM2 transcript variant X26 XM_017019020.2:c.820C>A Q [CAG] > K [AAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X21 XP_016874509.2:p.Gln274Lys Q (Gln) > K (Lys) Missense Variant
R3HDM2 transcript variant X27 XM_047428528.1:c.709C>G Q [CAG] > E [GAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X22 XP_047284484.1:p.Gln237Glu Q (Gln) > E (Glu) Missense Variant
R3HDM2 transcript variant X27 XM_047428528.1:c.709C>A Q [CAG] > K [AAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X22 XP_047284484.1:p.Gln237Lys Q (Gln) > K (Lys) Missense Variant
R3HDM2 transcript variant X28 XM_047428529.1:c.709C>G Q [CAG] > E [GAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X22 XP_047284485.1:p.Gln237Glu Q (Gln) > E (Glu) Missense Variant
R3HDM2 transcript variant X28 XM_047428529.1:c.709C>A Q [CAG] > K [AAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X22 XP_047284485.1:p.Gln237Lys Q (Gln) > K (Lys) Missense Variant
R3HDM2 transcript variant X29 XM_047428530.1:c.550C>G Q [CAG] > E [GAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X23 XP_047284486.1:p.Gln184Glu Q (Gln) > E (Glu) Missense Variant
R3HDM2 transcript variant X29 XM_047428530.1:c.550C>A Q [CAG] > K [AAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X23 XP_047284486.1:p.Gln184Lys Q (Gln) > K (Lys) Missense Variant
R3HDM2 transcript variant X30 XM_047428532.1:c.649C>G Q [CAG] > E [GAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X24 XP_047284488.1:p.Gln217Glu Q (Gln) > E (Glu) Missense Variant
R3HDM2 transcript variant X30 XM_047428532.1:c.649C>A Q [CAG] > K [AAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X24 XP_047284488.1:p.Gln217Lys Q (Gln) > K (Lys) Missense Variant
R3HDM2 transcript variant X31 XM_047428533.1:c.709C>G Q [CAG] > E [GAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X25 XP_047284489.1:p.Gln237Glu Q (Gln) > E (Glu) Missense Variant
R3HDM2 transcript variant X31 XM_047428533.1:c.709C>A Q [CAG] > K [AAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X25 XP_047284489.1:p.Gln237Lys Q (Gln) > K (Lys) Missense Variant
R3HDM2 transcript variant X32 XM_047428534.1:c.649C>G Q [CAG] > E [GAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X26 XP_047284490.1:p.Gln217Glu Q (Gln) > E (Glu) Missense Variant
R3HDM2 transcript variant X32 XM_047428534.1:c.649C>A Q [CAG] > K [AAG] Coding Sequence Variant
R3H domain-containing protein 2 isoform X26 XP_047284490.1:p.Gln217Lys Q (Gln) > K (Lys) 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 G= C T
GRCh38.p14 chr 12 NC_000012.12:g.57295500= NC_000012.12:g.57295500G>C NC_000012.12:g.57295500G>T
GRCh37.p13 chr 12 NC_000012.11:g.57689283= NC_000012.11:g.57689283G>C NC_000012.11:g.57689283G>T
R3HDM2 transcript variant 3 NM_014925.5:c.709= NM_014925.5:c.709C>G NM_014925.5:c.709C>A
R3HDM2 transcript variant 3 NM_014925.4:c.709= NM_014925.4:c.709C>G NM_014925.4:c.709C>A
R3HDM2 transcript NM_014925.3:c.709= NM_014925.3:c.709C>G NM_014925.3:c.709C>A
R3HDM2 transcript variant 8 NM_001351207.2:c.733= NM_001351207.2:c.733C>G NM_001351207.2:c.733C>A
R3HDM2 transcript variant 8 NM_001351207.1:c.733= NM_001351207.1:c.733C>G NM_001351207.1:c.733C>A
R3HDM2 transcript variant 9 NM_001351208.2:c.709= NM_001351208.2:c.709C>G NM_001351208.2:c.709C>A
R3HDM2 transcript variant 9 NM_001351208.1:c.709= NM_001351208.1:c.709C>G NM_001351208.1:c.709C>A
R3HDM2 transcript variant 5 NM_001351204.2:c.709= NM_001351204.2:c.709C>G NM_001351204.2:c.709C>A
R3HDM2 transcript variant 5 NM_001351204.1:c.709= NM_001351204.1:c.709C>G NM_001351204.1:c.709C>A
R3HDM2 transcript variant 7 NM_001351206.2:c.709= NM_001351206.2:c.709C>G NM_001351206.2:c.709C>A
R3HDM2 transcript variant 7 NM_001351206.1:c.709= NM_001351206.1:c.709C>G NM_001351206.1:c.709C>A
R3HDM2 transcript variant 1 NM_001330121.2:c.709= NM_001330121.2:c.709C>G NM_001330121.2:c.709C>A
R3HDM2 transcript variant 1 NM_001330121.1:c.709= NM_001330121.1:c.709C>G NM_001330121.1:c.709C>A
R3HDM2 transcript variant 2 NM_001330122.2:c.709= NM_001330122.2:c.709C>G NM_001330122.2:c.709C>A
R3HDM2 transcript variant 2 NM_001330122.1:c.709= NM_001330122.1:c.709C>G NM_001330122.1:c.709C>A
R3HDM2 transcript variant 6 NM_001351205.2:c.709= NM_001351205.2:c.709C>G NM_001351205.2:c.709C>A
R3HDM2 transcript variant 6 NM_001351205.1:c.709= NM_001351205.1:c.709C>G NM_001351205.1:c.709C>A
R3HDM2 transcript variant 10 NM_001351209.2:c.709= NM_001351209.2:c.709C>G NM_001351209.2:c.709C>A
R3HDM2 transcript variant 10 NM_001351209.1:c.709= NM_001351209.1:c.709C>G NM_001351209.1:c.709C>A
R3HDM2 transcript variant 11 NM_001351211.2:c.733= NM_001351211.2:c.733C>G NM_001351211.2:c.733C>A
R3HDM2 transcript variant 11 NM_001351211.1:c.733= NM_001351211.1:c.733C>G NM_001351211.1:c.733C>A
R3HDM2 transcript variant 12 NM_001351212.2:c.709= NM_001351212.2:c.709C>G NM_001351212.2:c.709C>A
R3HDM2 transcript variant 12 NM_001351212.1:c.709= NM_001351212.1:c.709C>G NM_001351212.1:c.709C>A
R3HDM2 transcript variant 15 NM_001351215.2:c.709= NM_001351215.2:c.709C>G NM_001351215.2:c.709C>A
R3HDM2 transcript variant 15 NM_001351215.1:c.709= NM_001351215.1:c.709C>G NM_001351215.1:c.709C>A
R3HDM2 transcript variant 16 NM_001351216.2:c.649= NM_001351216.2:c.649C>G NM_001351216.2:c.649C>A
R3HDM2 transcript variant 16 NM_001351216.1:c.649= NM_001351216.1:c.649C>G NM_001351216.1:c.649C>A
R3HDM2 transcript variant 13 NM_001351213.2:c.709= NM_001351213.2:c.709C>G NM_001351213.2:c.709C>A
R3HDM2 transcript variant 13 NM_001351213.1:c.709= NM_001351213.1:c.709C>G NM_001351213.1:c.709C>A
R3HDM2 transcript variant 4 NM_001330123.2:c.733= NM_001330123.2:c.733C>G NM_001330123.2:c.733C>A
R3HDM2 transcript variant 4 NM_001330123.1:c.733= NM_001330123.1:c.733C>G NM_001330123.1:c.733C>A
R3HDM2 transcript variant 18 NM_001351218.2:c.709= NM_001351218.2:c.709C>G NM_001351218.2:c.709C>A
R3HDM2 transcript variant 18 NM_001351218.1:c.709= NM_001351218.1:c.709C>G NM_001351218.1:c.709C>A
R3HDM2 transcript variant 14 NM_001351214.2:c.709= NM_001351214.2:c.709C>G NM_001351214.2:c.709C>A
R3HDM2 transcript variant 14 NM_001351214.1:c.709= NM_001351214.1:c.709C>G NM_001351214.1:c.709C>A
R3HDM2 transcript variant 17 NM_001351217.2:c.709= NM_001351217.2:c.709C>G NM_001351217.2:c.709C>A
R3HDM2 transcript variant 17 NM_001351217.1:c.709= NM_001351217.1:c.709C>G NM_001351217.1:c.709C>A
R3HDM2 transcript variant X14 XM_024448885.2:c.796= XM_024448885.2:c.796C>G XM_024448885.2:c.796C>A
R3HDM2 transcript variant X19 XM_024448885.1:c.649= XM_024448885.1:c.649C>G XM_024448885.1:c.649C>A
R3HDM2 transcript variant X15 XM_017019009.2:c.880= XM_017019009.2:c.880C>G XM_017019009.2:c.880C>A
R3HDM2 transcript variant X20 XM_017019009.1:c.733= XM_017019009.1:c.733C>G XM_017019009.1:c.733C>A
R3HDM2 transcript variant X17 XM_017019012.2:c.820= XM_017019012.2:c.820C>G XM_017019012.2:c.820C>A
R3HDM2 transcript variant X22 XM_017019012.1:c.673= XM_017019012.1:c.673C>G XM_017019012.1:c.673C>A
R3HDM2 transcript variant X26 XM_017019020.2:c.820= XM_017019020.2:c.820C>G XM_017019020.2:c.820C>A
R3HDM2 transcript variant X25 XM_017019020.1:c.673= XM_017019020.1:c.673C>G XM_017019020.1:c.673C>A
R3HDM2 transcript variant X2 XM_047428507.1:c.829= XM_047428507.1:c.829C>G XM_047428507.1:c.829C>A
R3HDM2 transcript variant X8 XM_047428513.1:c.733= XM_047428513.1:c.733C>G XM_047428513.1:c.733C>A
R3HDM2 transcript variant X5 XM_047428510.1:c.733= XM_047428510.1:c.733C>G XM_047428510.1:c.733C>A
R3HDM2 transcript variant X9 XM_047428514.1:c.733= XM_047428514.1:c.733C>G XM_047428514.1:c.733C>A
R3HDM2 transcript variant X19 XM_047428521.1:c.709= XM_047428521.1:c.709C>G XM_047428521.1:c.709C>A
R3HDM2 transcript variant X12 XM_047428517.1:c.709= XM_047428517.1:c.709C>G XM_047428517.1:c.709C>A
R3HDM2 transcript variant X21 XM_047428523.1:c.733= XM_047428523.1:c.733C>G XM_047428523.1:c.733C>A
R3HDM2 transcript variant X7 XM_047428512.1:c.733= XM_047428512.1:c.733C>G XM_047428512.1:c.733C>A
R3HDM2 transcript variant X16 XM_047428519.1:c.733= XM_047428519.1:c.733C>G XM_047428519.1:c.733C>A
R3HDM2 transcript variant X23 XM_047428525.1:c.709= XM_047428525.1:c.709C>G XM_047428525.1:c.709C>A
R3HDM2 transcript variant 19 NM_001394031.1:c.709= NM_001394031.1:c.709C>G NM_001394031.1:c.709C>A
R3HDM2 transcript variant X29 XM_047428530.1:c.550= XM_047428530.1:c.550C>G XM_047428530.1:c.550C>A
R3HDM2 transcript variant X25 XM_047428527.1:c.733= XM_047428527.1:c.733C>G XM_047428527.1:c.733C>A
R3HDM2 transcript variant X30 XM_047428532.1:c.649= XM_047428532.1:c.649C>G XM_047428532.1:c.649C>A
R3HDM2 transcript variant X1 XM_047428506.1:c.880= XM_047428506.1:c.880C>G XM_047428506.1:c.880C>A
R3HDM2 transcript variant X28 XM_047428529.1:c.709= XM_047428529.1:c.709C>G XM_047428529.1:c.709C>A
R3HDM2 transcript variant X10 XM_047428515.1:c.733= XM_047428515.1:c.733C>G XM_047428515.1:c.733C>A
R3HDM2 transcript variant X6 XM_047428511.1:c.733= XM_047428511.1:c.733C>G XM_047428511.1:c.733C>A
R3HDM2 transcript variant X32 XM_047428534.1:c.649= XM_047428534.1:c.649C>G XM_047428534.1:c.649C>A
R3HDM2 transcript variant X3 XM_047428508.1:c.880= XM_047428508.1:c.880C>G XM_047428508.1:c.880C>A
R3HDM2 transcript variant X4 XM_047428509.1:c.856= XM_047428509.1:c.856C>G XM_047428509.1:c.856C>A
R3HDM2 transcript variant X13 XM_047428518.1:c.856= XM_047428518.1:c.856C>G XM_047428518.1:c.856C>A
R3HDM2 transcript variant X11 XM_047428516.1:c.880= XM_047428516.1:c.880C>G XM_047428516.1:c.880C>A
R3HDM2 transcript variant X27 XM_047428528.1:c.709= XM_047428528.1:c.709C>G XM_047428528.1:c.709C>A
R3HDM2 transcript variant X18 XM_047428520.1:c.856= XM_047428520.1:c.856C>G XM_047428520.1:c.856C>A
R3HDM2 transcript variant X20 XM_047428522.1:c.796= XM_047428522.1:c.796C>G XM_047428522.1:c.796C>A
R3HDM2 transcript variant X22 XM_047428524.1:c.880= XM_047428524.1:c.880C>G XM_047428524.1:c.880C>A
R3HDM2 transcript variant X31 XM_047428533.1:c.709= XM_047428533.1:c.709C>G XM_047428533.1:c.709C>A
R3HDM2 transcript variant X24 XM_047428526.1:c.856= XM_047428526.1:c.856C>G XM_047428526.1:c.856C>A
R3HDM2 transcript variant X33 XM_047428535.1:c.-25= XM_047428535.1:c.-25C>G XM_047428535.1:c.-25C>A
R3H domain-containing protein 2 isoform 2 NP_055740.3:p.Gln237= NP_055740.3:p.Gln237Glu NP_055740.3:p.Gln237Lys
R3H domain-containing protein 2 isoform 5 NP_001338136.1:p.Gln245= NP_001338136.1:p.Gln245Glu NP_001338136.1:p.Gln245Lys
R3H domain-containing protein 2 isoform 6 NP_001338137.1:p.Gln237= NP_001338137.1:p.Gln237Glu NP_001338137.1:p.Gln237Lys
R3H domain-containing protein 2 isoform 4 NP_001338133.1:p.Gln237= NP_001338133.1:p.Gln237Glu NP_001338133.1:p.Gln237Lys
R3H domain-containing protein 2 isoform 4 NP_001338135.1:p.Gln237= NP_001338135.1:p.Gln237Glu NP_001338135.1:p.Gln237Lys
R3H domain-containing protein 2 isoform 1 NP_001317050.1:p.Gln237= NP_001317050.1:p.Gln237Glu NP_001317050.1:p.Gln237Lys
R3H domain-containing protein 2 isoform 1 NP_001317051.1:p.Gln237= NP_001317051.1:p.Gln237Glu NP_001317051.1:p.Gln237Lys
R3H domain-containing protein 2 isoform 4 NP_001338134.1:p.Gln237= NP_001338134.1:p.Gln237Glu NP_001338134.1:p.Gln237Lys
R3H domain-containing protein 2 isoform 7 NP_001338138.1:p.Gln237= NP_001338138.1:p.Gln237Glu NP_001338138.1:p.Gln237Lys
R3H domain-containing protein 2 isoform 8 NP_001338140.1:p.Gln245= NP_001338140.1:p.Gln245Glu NP_001338140.1:p.Gln245Lys
R3H domain-containing protein 2 isoform 9 NP_001338141.1:p.Gln237= NP_001338141.1:p.Gln237Glu NP_001338141.1:p.Gln237Lys
R3H domain-containing protein 2 isoform 9 NP_001338144.1:p.Gln237= NP_001338144.1:p.Gln237Glu NP_001338144.1:p.Gln237Lys
R3H domain-containing protein 2 isoform 10 NP_001338145.1:p.Gln217= NP_001338145.1:p.Gln217Glu NP_001338145.1:p.Gln217Lys
R3H domain-containing protein 2 isoform 9 NP_001338142.1:p.Gln237= NP_001338142.1:p.Gln237Glu NP_001338142.1:p.Gln237Lys
R3H domain-containing protein 2 isoform 3 NP_001317052.1:p.Gln245= NP_001317052.1:p.Gln245Glu NP_001317052.1:p.Gln245Lys
R3H domain-containing protein 2 isoform 11 NP_001338147.1:p.Gln237= NP_001338147.1:p.Gln237Glu NP_001338147.1:p.Gln237Lys
R3H domain-containing protein 2 isoform 9 NP_001338143.1:p.Gln237= NP_001338143.1:p.Gln237Glu NP_001338143.1:p.Gln237Lys
R3H domain-containing protein 2 isoform 11 NP_001338146.1:p.Gln237= NP_001338146.1:p.Gln237Glu NP_001338146.1:p.Gln237Lys
R3H domain-containing protein 2 isoform X9 XP_024304653.2:p.Gln266= XP_024304653.2:p.Gln266Glu XP_024304653.2:p.Gln266Lys
R3H domain-containing protein 2 isoform X10 XP_016874498.2:p.Gln294= XP_016874498.2:p.Gln294Glu XP_016874498.2:p.Gln294Lys
R3H domain-containing protein 2 isoform X12 XP_016874501.2:p.Gln274= XP_016874501.2:p.Gln274Glu XP_016874501.2:p.Gln274Lys
R3H domain-containing protein 2 isoform X21 XP_016874509.2:p.Gln274= XP_016874509.2:p.Gln274Glu XP_016874509.2:p.Gln274Lys
R3H domain-containing protein 2 isoform X2 XP_047284463.1:p.Gln277= XP_047284463.1:p.Gln277Glu XP_047284463.1:p.Gln277Lys
R3H domain-containing protein 2 isoform X5 XP_047284469.1:p.Gln245= XP_047284469.1:p.Gln245Glu XP_047284469.1:p.Gln245Lys
R3H domain-containing protein 2 isoform X5 XP_047284466.1:p.Gln245= XP_047284466.1:p.Gln245Glu XP_047284466.1:p.Gln245Lys
R3H domain-containing protein 2 isoform X5 XP_047284470.1:p.Gln245= XP_047284470.1:p.Gln245Glu XP_047284470.1:p.Gln245Lys
R3H domain-containing protein 2 isoform X14 XP_047284477.1:p.Gln237= XP_047284477.1:p.Gln237Glu XP_047284477.1:p.Gln237Lys
R3H domain-containing protein 2 isoform X7 XP_047284473.1:p.Gln237= XP_047284473.1:p.Gln237Glu XP_047284473.1:p.Gln237Lys
R3H domain-containing protein 2 isoform X16 XP_047284479.1:p.Gln245= XP_047284479.1:p.Gln245Glu XP_047284479.1:p.Gln245Lys
R3H domain-containing protein 2 isoform X5 XP_047284468.1:p.Gln245= XP_047284468.1:p.Gln245Glu XP_047284468.1:p.Gln245Lys
R3H domain-containing protein 2 isoform X11 XP_047284475.1:p.Gln245= XP_047284475.1:p.Gln245Glu XP_047284475.1:p.Gln245Lys
R3H domain-containing protein 2 isoform X18 XP_047284481.1:p.Gln237= XP_047284481.1:p.Gln237Glu XP_047284481.1:p.Gln237Lys
R3H domain-containing protein 2 isoform 12 NP_001380960.1:p.Gln237= NP_001380960.1:p.Gln237Glu NP_001380960.1:p.Gln237Lys
R3H domain-containing protein 2 isoform X23 XP_047284486.1:p.Gln184= XP_047284486.1:p.Gln184Glu XP_047284486.1:p.Gln184Lys
R3H domain-containing protein 2 isoform X20 XP_047284483.1:p.Gln245= XP_047284483.1:p.Gln245Glu XP_047284483.1:p.Gln245Lys
R3H domain-containing protein 2 isoform X24 XP_047284488.1:p.Gln217= XP_047284488.1:p.Gln217Glu XP_047284488.1:p.Gln217Lys
R3H domain-containing protein 2 isoform X1 XP_047284462.1:p.Gln294= XP_047284462.1:p.Gln294Glu XP_047284462.1:p.Gln294Lys
R3H domain-containing protein 2 isoform X22 XP_047284485.1:p.Gln237= XP_047284485.1:p.Gln237Glu XP_047284485.1:p.Gln237Lys
R3H domain-containing protein 2 isoform X5 XP_047284471.1:p.Gln245= XP_047284471.1:p.Gln245Glu XP_047284471.1:p.Gln245Lys
R3H domain-containing protein 2 isoform X5 XP_047284467.1:p.Gln245= XP_047284467.1:p.Gln245Glu XP_047284467.1:p.Gln245Lys
R3H domain-containing protein 2 isoform X26 XP_047284490.1:p.Gln217= XP_047284490.1:p.Gln217Glu XP_047284490.1:p.Gln217Lys
R3H domain-containing protein 2 isoform X3 XP_047284464.1:p.Gln294= XP_047284464.1:p.Gln294Glu XP_047284464.1:p.Gln294Lys
R3H domain-containing protein 2 isoform X4 XP_047284465.1:p.Gln286= XP_047284465.1:p.Gln286Glu XP_047284465.1:p.Gln286Lys
R3H domain-containing protein 2 isoform X8 XP_047284474.1:p.Gln286= XP_047284474.1:p.Gln286Glu XP_047284474.1:p.Gln286Lys
R3H domain-containing protein 2 isoform X6 XP_047284472.1:p.Gln294= XP_047284472.1:p.Gln294Glu XP_047284472.1:p.Gln294Lys
R3H domain-containing protein 2 isoform X22 XP_047284484.1:p.Gln237= XP_047284484.1:p.Gln237Glu XP_047284484.1:p.Gln237Lys
R3H domain-containing protein 2 isoform X13 XP_047284476.1:p.Gln286= XP_047284476.1:p.Gln286Glu XP_047284476.1:p.Gln286Lys
R3H domain-containing protein 2 isoform X15 XP_047284478.1:p.Gln266= XP_047284478.1:p.Gln266Glu XP_047284478.1:p.Gln266Lys
R3H domain-containing protein 2 isoform X17 XP_047284480.1:p.Gln294= XP_047284480.1:p.Gln294Glu XP_047284480.1:p.Gln294Lys
R3H domain-containing protein 2 isoform X25 XP_047284489.1:p.Gln237= XP_047284489.1:p.Gln237Glu XP_047284489.1:p.Gln237Lys
R3H domain-containing protein 2 isoform X19 XP_047284482.1:p.Gln286= XP_047284482.1:p.Gln286Glu XP_047284482.1:p.Gln286Lys
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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, 3 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2739926702 Nov 08, 2017 (151)
2 TOPMED ss4919681134 Apr 26, 2021 (155)
3 gnomAD - Exomes NC_000012.11 - 57689283 Jul 13, 2019 (153)
4 TopMed NC_000012.12 - 57295500 Apr 26, 2021 (155)
5 ALFA NC_000012.12 - 57295500 Apr 26, 2021 (155)
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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
13512020957 NC_000012.12:57295499:G:C NC_000012.12:57295499:G:C (self)
9160797, ss2739926702 NC_000012.11:57689282:G:T NC_000012.12:57295499:G:T (self)
135226791, 13512020957, ss4919681134 NC_000012.12:57295499:G:T NC_000012.12:57295499:G:T (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 rs1490047425

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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