Linked Data
ClinVar Variation Id:
16361
dbSNP Id:
rs121913087
gnomAD v4:
4-154606933-G-A
COSMIC:
COSM3601197
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154606933G>A , CM000666.2:g.154606933G>A | GRCh38 |
| NC_000004.11:g.155528085G>A , CM000666.1:g.155528085G>A | GRCh37 |
| NC_000004.10:g.155747535G>A | NCBI36 |
| NG_008834.1:g.10818C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000336098.8:c.901C>T MANE Select | ENSP00000336829.3:p.Arg301Cys | |
| ENST00000336098.7:c.901C>T | ENSP00000336829.3:p.Arg301Cys | |
| ENST00000404648.7:c.901C>T | ENSP00000384860.3:p.Arg301Cys | |
| ENST00000405164.5:c.925C>T | ENSP00000384101.1:p.Arg309Cys | |
| ENST00000407946.5:c.925C>T | ENSP00000384552.1:p.Arg309Cys | |
| ENST00000465913.1:n.449C>T | ||
| ENST00000492082.5:n.1443C>T | ||
| NM_000509.4:c.901C>T | NP_000500.2:p.Arg301Cys | |
| NM_000509.5:c.901C>T | NP_000500.2:p.Arg301Cys | |
| NM_021870.2:c.901C>T | NP_068656.2:p.Arg301Cys | |
| NM_021870.3:c.901C>T MANE Select | NP_068656.2:p.Arg301Cys | |
| NM_000509.6:c.901C>T | NP_000500.2:p.Arg301Cys |