Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37955922C>T , CM000671.2:g.37955922C>T | GRCh38 |
| NC_000009.11:g.37955919C>T , CM000671.1:g.37955919C>T | GRCh37 |
| NC_000009.10:g.37945919C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377707.4:c.1187G>A MANE Select | ENSP00000366936.3:p.Gly396Glu | |
| ENST00000377707.3:c.1187G>A | ENSP00000366936.3:p.Gly396Glu | |
| ENST00000540557.1:c.*400G>A | ENSP00000457548.1:n.*400G>A | |
| NM_003028.2:c.1187G>A | NP_003019.2:p.Gly396Glu | |
| NM_003028.3:c.1187G>A MANE Select | NP_003019.2:p.Gly396Glu |