Linked Data
dbSNP Id:
rs747142328
ExAC:
1:173878963 G / A
gnomAD v2:
1-173878963-G-A
gnomAD v4:
1-173909825-G-A
COSMIC:
COSM899813
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173909825G>A , CM000663.2:g.173909825G>A | GRCh38 |
| NC_000001.10:g.173878963G>A , CM000663.1:g.173878963G>A | GRCh37 |
| NC_000001.9:g.172145586G>A | NCBI36 |
| NG_012462.1:g.12554C>T , LRG_577:g.12554C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.880C>T MANE Select | ENSP00000356671.3:p.Arg294Cys | |
| ENST00000367698.3:c.880C>T | ENSP00000356671.3:p.Arg294Cys | |
| ENST00000487183.1:n.531C>T | ||
| ENST00000617423.4:c.559+2039C>T | ENSP00000478688.1:n.559+2039C>T | |
| NM_000488.3:c.880C>T , LRG_577t1:c.880C>T | NP_000479.1:p.Arg294Cys | |
| XM_005245198.2:c.736C>T | XP_005245255.1:p.Arg246Cys | |
| NM_001365052.1:c.736C>T | NP_001351981.1:p.Arg246Cys | |
| NM_000488.4:c.880C>T MANE Select | NP_000479.1:p.Arg294Cys | |
| NM_001365052.2:c.736C>T | NP_001351981.1:p.Arg246Cys | |
| NM_001386302.1:c.1003C>T | NP_001373231.1:p.Arg335Cys | |
| NM_001386303.1:c.961C>T | NP_001373232.1:p.Arg321Cys | |
| NM_001386304.1:c.859C>T | NP_001373233.1:p.Arg287Cys | |
| NM_001386305.1:c.823C>T | NP_001373234.1:p.Arg275Cys | |
| NM_001386306.1:c.664C>T | NP_001373235.1:p.Arg222Cys |