Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150992613G>A , CM000669.2:g.150992613G>A | GRCh38 |
| NC_000007.13:g.150689701G>A , CM000669.1:g.150689701G>A | GRCh37 |
| NC_000007.12:g.150320634G>A | NCBI36 |
| NG_011992.1:g.6555G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297494.8:c.-51-1140G>A MANE Select | ENSP00000297494.3:n.-51-1140G>A | |
| ENST00000297494.7:c.-51-1140G>A | ENSP00000297494.3:n.-51-1140G>A | |
| ENST00000461406.5:c.-149+1313G>A | ENSP00000417143.1:n.-149+1313G>A | |
| NM_000603.4:c.-51-1140G>A | NP_000594.2:n.-51-1140G>A | |
| NM_000603.5:c.-51-1140G>A MANE Select | NP_000594.2:n.-51-1140G>A |