Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.24800110G>A , CM000666.2:g.24800110G>A | GRCh38 |
| NC_000004.11:g.24801732G>A , CM000666.1:g.24801732G>A | GRCh37 |
| NC_000004.10:g.24410830G>A | NCBI36 |
| NG_012213.1:g.9648G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382120.4:c.589G>A MANE Select | ENSP00000371554.3:p.Glu197Lys | |
| ENST00000382120.3:c.589G>A | ENSP00000371554.3:p.Glu197Lys | |
| NM_003102.2:c.589G>A | NP_003093.2:p.Glu197Lys | |
| XR_427488.1:n.779G>A | ||
| NM_003102.3:c.589G>A | NP_003093.2:p.Glu197Lys | |
| NM_003102.4:c.589G>A MANE Select | NP_003093.2:p.Glu197Lys |