Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28659108G>A , CM000675.2:g.28659108G>A | GRCh38 |
| NC_000013.10:g.29233245G>A , CM000675.1:g.29233245G>A | GRCh37 |
| NC_000013.9:g.28131245G>A | NCBI36 |
| NG_027550.1:g.5105G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697716.1:c.-162G>A | ENSP00000513414.1:n.-162G>A | |
| ENST00000380842.4:c.-77G>A | ENSP00000370222.4:n.-77G>A | |
| ENST00000460403.1:n.5G>A | ||
| NM_015932.5:c.-77G>A | NP_057016.1:n.-77G>A |