Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56950154C>T , CM000679.2:g.56950154C>T | GRCh38 |
| NC_000017.10:g.55027515C>T , CM000679.1:g.55027515C>T | GRCh37 |
| NC_000017.9:g.52382514C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000240316.5:c.1088G>A MANE Select | ENSP00000240316.4:p.Gly363Asp | |
| ENST00000240316.4:c.1088G>A | ENSP00000240316.4:p.Gly363Asp | |
| NM_004645.2:c.1088G>A | NP_004636.1:p.Gly363Asp | |
| NM_004645.3:c.1088G>A MANE Select | NP_004636.1:p.Gly363Asp |