Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28659131G>A , CM000675.2:g.28659131G>A | GRCh38 |
| NC_000013.10:g.29233268G>A , CM000675.1:g.29233268G>A | GRCh37 |
| NC_000013.9:g.28131268G>A | NCBI36 |
| NG_027550.1:g.5128G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697716.1:c.-139G>A | ENSP00000513414.1:n.-139G>A | |
| ENST00000697717.1:c.-54G>A | ENSP00000513415.1:n.-54G>A | |
| ENST00000380842.5:c.-54G>A MANE Select | ENSP00000370222.4:n.-54G>A | |
| ENST00000380842.4:c.-54G>A | ENSP00000370222.4:n.-54G>A | |
| ENST00000460403.1:n.28G>A | ||
| NM_015932.5:c.-54G>A | NP_057016.1:n.-54G>A | |
| NM_015932.6:c.-54G>A MANE Select | NP_057016.1:n.-54G>A |