Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445699A>G , CM000663.2:g.15445699A>G | GRCh38 |
| NC_000001.10:g.15772194A>G , CM000663.1:g.15772194A>G | GRCh37 |
| NC_000001.9:g.15644781A>G | NCBI36 |
| NG_009253.1:g.12257A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.742A>G MANE Select | ENSP00000365116.4:p.Lys248Glu | |
| ENST00000375943.6:c.*196A>G | ENSP00000365110.2:n.*196A>G | |
| ENST00000375949.4:c.742A>G | ENSP00000365116.4:p.Lys248Glu | |
| ENST00000483406.1:n.506A>G | ||
| NM_007272.2:c.742A>G | NP_009203.2:p.Lys248Glu | |
| XM_011540550.1:c.596A>G | XP_011538852.1:p.Glu199Gly | |
| NM_007272.3:c.742A>G MANE Select | NP_009203.2:p.Lys248Glu |