Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128945753T>G , CM000671.2:g.128945753T>G | GRCh38 |
| NC_000009.11:g.131708032T>G , CM000671.1:g.131708032T>G | GRCh37 |
| NC_000009.10:g.130747853T>G | NCBI36 |
| NG_017009.1:g.6981A>C , LRG_744:g.6981A>C | |
| NG_033111.1:g.3061T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372586.4:c.1551A>C MANE Select | ENSP00000361667.3:p.Glu517Asp | |
| ENST00000372586.3:c.1551A>C | ENSP00000361667.3:p.Glu517Asp | |
| ENST00000482796.1:c.39-3436T>G | ENSP00000417556.2:n.39-3436T>G | |
| NM_014908.3:c.1551A>C , LRG_744t1:c.1551A>C | NP_055723.1:p.Glu517Asp | |
| NM_014908.4:c.1551A>C MANE Select | NP_055723.1:p.Glu517Asp |