Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186144654C>T , CM000663.2:g.186144654C>T | GRCh38 |
| NC_000001.10:g.186113786C>T , CM000663.1:g.186113786C>T | GRCh37 |
| NC_000001.9:g.184380409C>T | NCBI36 |
| NG_011841.1:g.415104C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_031935.3:c.14217C>T MANE Select | NP_114141.2:p.Cys4739= |
| ENST00000271588.9:c.14217C>T MANE Select | ENSP00000271588.4:p.Cys4739= |
| NM_031935.2:c.14217C>T | NP_114141.2:p.Cys4739= |
| ENST00000271588.8:c.14217C>T | ENSP00000271588.4:p.Cys4739= |
| XM_011510037.1:c.13932C>T | XP_011508339.1:p.Cys4644= |
| XM_011510038.1:c.14217C>T | XP_011508340.1:p.Cys4739= |
| XM_011510038.3:c.14217C>T | XP_011508340.1:p.Cys4739= |
| XM_011510039.1:c.14217C>T | XP_011508341.1:p.Cys4739= |
| XM_017002437.1:c.12240C>T | XP_016857926.1:p.Cys4080= |