Linked Data
ClinVar Variation Id:
127158
ClinVar RCV Id:
RCV000115014
RCV000433622
RCV000754960
RCV000653250
RCV000850617
RCV001262101
RCV003224149
RCV003224150
dbSNP Id:
rs79436363
ExAC:
4:39274649 G / A
gnomAD v2:
4-39274649-G-A
gnomAD v3:
4-39273029-G-A
gnomAD v4:
4-39273029-G-A
PubMed:
PMID:23559409
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39273029G>A , CM000666.2:g.39273029G>A | GRCh38 |
| NC_000004.11:g.39274649G>A , CM000666.1:g.39274649G>A | GRCh37 |
| NC_000004.10:g.38951044G>A | NCBI36 |
| NG_031813.1:g.95626G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399820.8:c.3533G>A MANE Select | ENSP00000382717.3:p.Arg1178Gln | |
| ENST00000399820.7:c.3533G>A | ENSP00000382717.3:p.Arg1178Gln | |
| ENST00000506869.5:c.*3114G>A | ENSP00000424319.1:n.*3114G>A | |
| ENST00000512095.5:n.2531G>A | ||
| ENST00000512534.5:n.98G>A | ||
| NM_025132.3:c.3533G>A | NP_079408.3:p.Arg1178Gln | |
| XM_011513724.1:c.3545G>A | XP_011512026.1:p.Arg1182Gln | |
| XM_011513725.1:c.3479G>A | XP_011512027.1:p.Arg1160Gln | |
| XM_011513726.1:c.3065G>A | XP_011512028.1:p.Arg1022Gln | |
| XM_011513727.1:c.3065G>A | XP_011512029.1:p.Arg1022Gln | |
| XM_011513728.1:c.3053G>A | XP_011512030.1:p.Arg1018Gln | |
| XR_925155.1:n.3609G>A | ||
| NM_001317924.1:c.3053G>A | NP_001304853.1:p.Arg1018Gln | |
| XM_011513725.2:c.3479G>A | XP_011512027.1:p.Arg1160Gln | |
| XM_011513726.3:c.3065G>A | XP_011512028.1:p.Arg1022Gln | |
| XM_017008501.1:c.3053G>A | XP_016863990.1:p.Arg1018Gln | |
| XR_001741306.1:n.3609G>A | ||
| XR_001741307.1:n.3597G>A | ||
| XR_001741308.1:n.3609G>A | ||
| XR_001741309.1:n.3597G>A | ||
| XR_001741310.1:n.3597G>A | ||
| XR_001741311.2:n.3446G>A | ||
| NM_025132.4:c.3533G>A MANE Select | NP_079408.3:p.Arg1178Gln | |
| NM_001317924.2:c.3053G>A | NP_001304853.1:p.Arg1018Gln |