Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.116373526G>T , CM000663.2:g.116373526G>T | GRCh38 |
| NC_000001.10:g.116916148G>T , CM000663.1:g.116916148G>T | GRCh37 |
| NC_000001.9:g.116717671G>T | NCBI36 |
| NG_047036.1:g.6342G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000701.8:c.12+3G>T MANE Select | NP_000692.2:n.12+3G>T |
| ENST00000295598.10:c.12+3G>T MANE Select | ENSP00000295598.5:n.12+3G>T |
| NM_000701.7:c.12+3G>T | NP_000692.2:n.12+3G>T |
| ENST00000295598.9:c.12+3G>T | ENSP00000295598.5:n.12+3G>T |
| ENST00000418797.5:c.-82+605G>T | ENSP00000400124.1:n.-82+605G>T |
| ENST00000488733.1:n.255+3G>T | |
| XM_006710655.2:c.-82+835G>T | XP_006710718.1:n.-82+835G>T |
| XR_002956654.1:n.538+3G>T |