Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150992991C>G , CM000669.2:g.150992991C>G | GRCh38 |
| NC_000007.13:g.150690079C>G , CM000669.1:g.150690079C>G | GRCh37 |
| NC_000007.12:g.150321012C>G | NCBI36 |
| NG_011992.1:g.6933C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000603.5:c.-51-762C>G MANE Select | NP_000594.2:n.-51-762C>G |
| ENST00000297494.8:c.-51-762C>G MANE Select | ENSP00000297494.3:n.-51-762C>G |
| NM_000603.4:c.-51-762C>G | NP_000594.2:n.-51-762C>G |
| ENST00000297494.7:c.-51-762C>G | ENSP00000297494.3:n.-51-762C>G |
| ENST00000461406.5:c.-149+1691C>G | ENSP00000417143.1:n.-149+1691C>G |