Linked Data
dbSNP Id:
rs12316150
gnomAD v2:
12-10312291-A-T
gnomAD v3:
12-10159692-A-T
gnomAD v4:
12-10159692-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.10159692A>T , CM000674.2:g.10159692A>T | GRCh38 |
| NC_000012.11:g.10312291A>T , CM000674.1:g.10312291A>T | GRCh37 |
| NC_000012.10:g.10203558A>T | NCBI36 |
| NG_016743.1:g.17500T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000309539.8:c.*188T>A MANE Select | ENSP00000309124.3:n.*188T>A | |
| ENST00000309539.7:c.*188T>A | ENSP00000309124.3:n.*188T>A | |
| ENST00000432556.6:c.*324T>A | ENSP00000405116.2:n.*324T>A | |
| ENST00000536989.1:n.545T>A | ||
| ENST00000543993.5:c.*324T>A | ENSP00000445085.1:n.*324T>A | |
| ENST00000544577.5:c.*188T>A | ENSP00000444457.1:n.*188T>A | |
| ENST00000545927.5:c.*324T>A | ENSP00000439251.1:n.*324T>A | |
| NM_001172632.1:c.*324T>A | NP_001166103.1:n.*324T>A | |
| NM_001172633.1:c.*324T>A | NP_001166104.1:n.*324T>A | |
| NM_002543.3:c.*188T>A | NP_002534.1:n.*188T>A | |
| XM_011520682.1:c.*188T>A | XP_011518984.1:n.*188T>A | |
| XM_011520683.1:c.*340T>A | XP_011518985.1:n.*340T>A | |
| NM_002543.4:c.*188T>A MANE Select | NP_002534.1:n.*188T>A | |
| NM_001172632.2:c.*324T>A | NP_001166103.1:n.*324T>A | |
| NM_001172633.2:c.*324T>A | NP_001166104.1:n.*324T>A |