Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15440619G>T , CM000663.2:g.15440619G>T | GRCh38 |
| NC_000001.10:g.15767115G>T , CM000663.1:g.15767115G>T | GRCh37 |
| NC_000001.9:g.15639702G>T | NCBI36 |
| NG_009253.1:g.7178G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.230+29G>T MANE Select | ENSP00000365116.4:n.230+29G>T | |
| ENST00000375943.6:c.41-1828G>T | ENSP00000365110.2:n.41-1828G>T | |
| ENST00000375949.4:c.230+29G>T | ENSP00000365116.4:n.230+29G>T | |
| ENST00000476813.5:n.53-1828G>T | ||
| ENST00000483406.1:n.140+29G>T | ||
| NM_007272.2:c.230+29G>T | NP_009203.2:n.230+29G>T | |
| XM_011540550.1:c.230+29G>T | XP_011538852.1:n.230+29G>T | |
| NM_007272.3:c.230+29G>T MANE Select | NP_009203.2:n.230+29G>T |