Linked Data
ClinVar Variation Id:
2735425
ClinVar RCV Id:
RCV003525314
dbSNP Id:
rs372852106
ExAC:
10:82034850 G / A
gnomAD v2:
10-82034850-G-A
gnomAD v3:
10-80275094-G-A
gnomAD v4:
10-80275094-G-A
COSMIC:
COSM4851995
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80275094G>A , CM000672.2:g.80275094G>A | GRCh38 |
| NC_000010.10:g.82034850G>A , CM000672.1:g.82034850G>A | GRCh37 |
| NC_000010.9:g.82024830G>A | NCBI36 |
| NG_008083.1:g.19585C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.874C>T MANE Select | ENSP00000361287.3:p.Arg292Cys | |
| ENST00000372213.7:c.874C>T | ENSP00000361287.3:p.Arg292Cys | |
| ENST00000480845.1:n.106C>T | ||
| ENST00000485270.5:n.386C>T | ||
| NM_000429.2:c.874C>T | NP_000420.1:p.Arg292Cys | |
| XM_005269842.3:c.874C>T | XP_005269899.1:p.Arg292Cys | |
| XM_005269843.3:c.751C>T | XP_005269900.1:p.Arg251Cys | |
| NM_000429.3:c.874C>T MANE Select | NP_000420.1:p.Arg292Cys |