Linked Data
dbSNP Id:
rs150168072
ExAC:
4:73179425 G / A
gnomAD v2:
4-73179425-G-A
gnomAD v3:
4-72313708-G-A
gnomAD v4:
4-72313708-G-A
COSMIC:
COSM3918106
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.72313708G>A , CM000666.2:g.72313708G>A | GRCh38 |
| NC_000004.11:g.73179425G>A , CM000666.1:g.73179425G>A | GRCh37 |
| NC_000004.10:g.73398289G>A | NCBI36 |
| NG_046955.1:g.260092C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286657.10:c.1714C>T MANE Select | ENSP00000286657.4:p.Arg572Cys | |
| ENST00000286657.8:c.1714C>T | ENSP00000286657.4:p.Arg572Cys | |
| ENST00000622135.1:c.1714C>T | ENSP00000480055.1:p.Arg572Cys | |
| NM_014243.2:c.1714C>T | NP_055058.2:p.Arg572Cys | |
| XM_011532421.1:c.1657C>T | XP_011530723.1:p.Arg553Cys | |
| XM_011532422.1:c.1630C>T | XP_011530724.1:p.Arg544Cys | |
| XM_011532423.1:c.1072C>T | XP_011530725.1:p.Arg358Cys | |
| XM_011532424.1:c.982C>T | XP_011530726.1:p.Arg328Cys | |
| XM_011532421.2:c.1657C>T | XP_011530723.1:p.Arg553Cys | |
| XM_011532422.3:c.1630C>T | XP_011530724.1:p.Arg544Cys | |
| NM_014243.3:c.1714C>T MANE Select | NP_055058.2:p.Arg572Cys |