Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38145228G>T , CM000670.2:g.38145228G>T | GRCh38 |
| NC_000008.10:g.38002746G>T , CM000670.1:g.38002746G>T | GRCh37 |
| NC_000008.9:g.38121903G>T | NCBI36 |
| NG_011827.1:g.10855C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000276449.9:c.738C>A MANE Select | ENSP00000276449.3:p.Asp246Glu | |
| ENST00000276449.8:c.738C>A | ENSP00000276449.3:p.Asp246Glu | |
| ENST00000520114.1:n.1872C>A | ||
| ENST00000522050.1:c.586+735C>A | ||
| NM_000349.2:c.738C>A | NP_000340.2:p.Asp246Glu | |
| XM_006716392.1:c.650+735C>A | XP_006716455.1:n.650+735C>A | |
| NM_000349.3:c.738C>A MANE Select | NP_000340.2:p.Asp246Glu |