Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186165119A>T , CM000663.2:g.186165119A>T | GRCh38 |
| NC_000001.10:g.186134251A>T , CM000663.1:g.186134251A>T | GRCh37 |
| NC_000001.9:g.184400874A>T | NCBI36 |
| NG_011841.1:g.435569A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_031935.3:c.15265A>T MANE Select | NP_114141.2:p.Ser5089Cys |
| ENST00000271588.9:c.15265A>T MANE Select | ENSP00000271588.4:p.Ser5089Cys |
| NM_031935.2:c.15265A>T | NP_114141.2:p.Ser5089Cys |
| ENST00000271588.8:c.15265A>T | ENSP00000271588.4:p.Ser5089Cys |
| ENST00000475585.1:n.163-6218A>T | |
| XM_011510037.1:c.14980A>T | XP_011508339.1:p.Ser4994Cys |
| XM_011510038.1:c.15265A>T | XP_011508340.1:p.Ser5089Cys |
| XM_011510038.3:c.15265A>T | XP_011508340.1:p.Ser5089Cys |
| XM_017002437.1:c.13288A>T | XP_016857926.1:p.Ser4430Cys |