Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186129954T>G , CM000663.2:g.186129954T>G | GRCh38 |
| NC_000001.10:g.186099086T>G , CM000663.1:g.186099086T>G | GRCh37 |
| NC_000001.9:g.184365709T>G | NCBI36 |
| NG_011841.1:g.400404T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.12905-12T>G MANE Select | ENSP00000271588.4:n.12905-12T>G | |
| ENST00000271588.8:c.12905-12T>G | ENSP00000271588.4:n.12905-12T>G | |
| NM_031935.2:c.12905-12T>G | NP_114141.2:n.12905-12T>G | |
| XM_011510037.1:c.12620-12T>G | XP_011508339.1:n.12620-12T>G | |
| XM_011510038.1:c.12905-12T>G | XP_011508340.1:n.12905-12T>G | |
| XM_011510039.1:c.12905-12T>G | XP_011508341.1:n.12905-12T>G | |
| XM_011510038.3:c.12905-12T>G | XP_011508340.1:n.12905-12T>G | |
| XM_017002437.1:c.10928-12T>G | XP_016857926.1:n.10928-12T>G | |
| NM_031935.3:c.12905-12T>G MANE Select | NP_114141.2:n.12905-12T>G |