Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186166899T>A , CM000663.2:g.186166899T>A | GRCh38 |
| NC_000001.10:g.186136031T>A , CM000663.1:g.186136031T>A | GRCh37 |
| NC_000001.9:g.184402654T>A | NCBI36 |
| NG_011841.1:g.437349T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.15531T>A MANE Select | ENSP00000271588.4:p.Cys5177Ter | |
| ENST00000271588.8:c.15531T>A | ENSP00000271588.4:p.Cys5177Ter | |
| ENST00000475585.1:n.163-4438T>A | ||
| NM_031935.2:c.15531T>A | NP_114141.2:p.Cys5177Ter | |
| XM_011510037.1:c.15246T>A | XP_011508339.1:p.Cys5082Ter | |
| XM_011510038.1:c.15531T>A | XP_011508340.1:p.Cys5177Ter | |
| XM_011510038.3:c.15531T>A | XP_011508340.1:p.Cys5177Ter | |
| XM_017002437.1:c.13554T>A | XP_016857926.1:p.Cys4518Ter | |
| NM_031935.3:c.15531T>A MANE Select | NP_114141.2:p.Cys5177Ter |