Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.12695542A>G , CM000671.2:g.12695542A>G | GRCh38 |
| NC_000009.11:g.12695542A>G , CM000671.1:g.12695542A>G | GRCh37 |
| NC_000009.10:g.12685542A>G | NCBI36 |
| NG_011705.1:g.7157A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388918.10:c.413A>G MANE Select | ENSP00000373570.4:p.Lys138Arg | |
| ENST00000388918.9:c.413A>G | ENSP00000373570.4:p.Lys138Arg | |
| NM_000550.2:c.413A>G | NP_000541.1:p.Lys138Arg | |
| XR_001746372.2:n.602A>G | ||
| NM_000550.3:c.413A>G MANE Select | NP_000541.1:p.Lys138Arg |