Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150992921C>A , CM000669.2:g.150992921C>A | GRCh38 |
| NC_000007.13:g.150690009C>A , CM000669.1:g.150690009C>A | GRCh37 |
| NC_000007.12:g.150320942C>A | NCBI36 |
| NG_011992.1:g.6863C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297494.8:c.-51-832C>A MANE Select | ENSP00000297494.3:n.-51-832C>A | |
| ENST00000297494.7:c.-51-832C>A | ENSP00000297494.3:n.-51-832C>A | |
| ENST00000461406.5:c.-149+1621C>A | ENSP00000417143.1:n.-149+1621C>A | |
| NM_000603.4:c.-51-832C>A | NP_000594.2:n.-51-832C>A | |
| NM_000603.5:c.-51-832C>A MANE Select | NP_000594.2:n.-51-832C>A |