Linked Data
dbSNP Id:
rs745345562
ExAC:
12:107395084 G / A
gnomAD v2:
12-107395084-G-A
gnomAD v3:
12-107001306-G-A
gnomAD v4:
12-107001306-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.107001306G>A , CM000674.2:g.107001306G>A | GRCh38 |
| NC_000012.11:g.107395084G>A , CM000674.1:g.107395084G>A | GRCh37 |
| NC_000012.10:g.105919214G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000008527.10:c.658C>T MANE Select | ENSP00000008527.5:p.Arg220Cys | |
| ENST00000008527.9:c.658C>T | ENSP00000008527.5:p.Arg220Cys | |
| ENST00000546722.1:n.151C>T | ||
| ENST00000552790.5:n.1217C>T | ||
| NM_004075.4:c.658C>T | NP_004066.1:p.Arg220Cys | |
| XM_011537939.1:c.574C>T | XP_011536241.1:p.Arg192Cys | |
| XM_017018832.2:c.574C>T | XP_016874321.1:p.Arg192Cys | |
| XM_024448844.1:c.658C>T | XP_024304612.1:p.Arg220Cys | |
| XM_024448845.1:c.574C>T | XP_024304613.1:p.Arg192Cys | |
| NM_004075.5:c.658C>T MANE Select | NP_004066.1:p.Arg220Cys |