Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66002525A>G , CM000673.2:g.66002525A>G | GRCh38 |
| NC_000011.9:g.65769996A>G , CM000673.1:g.65769996A>G | GRCh37 |
| NC_000011.8:g.65526572A>G | NCBI36 |
| NG_031874.1:g.5447A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003860.4:c.-62A>G MANE Select | NP_003851.1:n.-62A>G |
| ENST00000312175.7:c.-62A>G MANE Select | ENSP00000310275.2:n.-62A>G |
| NM_001143985.1:c.-17+12A>G | NP_001137457.1:n.-17+12A>G |
| NM_003860.3:c.-62A>G | NP_003851.1:n.-62A>G |
| ENST00000312175.6:c.-62A>G | ENSP00000310275.2:n.-62A>G |
| ENST00000445560.6:c.-17+12A>G | ENSP00000416128.2:n.-17+12A>G |
| ENST00000524628.1:n.46A>G | |
| ENST00000524663.1:n.198+12A>G | |
| ENST00000530204.1:c.-244+12A>G | ENSP00000431785.1:n.-244+12A>G |