Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.34858313A>G , CM000668.2:g.34858313A>G | GRCh38 |
| NC_000006.11:g.34826090A>G , CM000668.1:g.34826090A>G | GRCh37 |
| NC_000006.10:g.34934068A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000192788.6:c.1957A>G MANE Select | ENSP00000192788.5:p.Lys653Glu | |
| ENST00000192788.5:c.1957A>G | ENSP00000192788.5:p.Lys653Glu | |
| ENST00000452449.6:c.1957A>G | ENSP00000400628.2:p.Lys653Glu | |
| NM_017754.3:c.1957A>G | NP_060224.3:p.Lys653Glu | |
| XM_005249199.3:c.799A>G | XP_005249256.1:p.Lys267Glu | |
| XM_006715126.2:c.1957A>G | XP_006715189.1:p.Lys653Glu | |
| XM_011514714.1:c.1870A>G | XP_011513016.1:p.Lys624Glu | |
| XM_011514715.1:c.961A>G | XP_011513017.1:p.Lys321Glu | |
| NM_017754.4:c.1957A>G MANE Select | NP_060224.3:p.Lys653Glu |