Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445749G>A , CM000663.2:g.15445749G>A | GRCh38 |
| NC_000001.10:g.15772244G>A , CM000663.1:g.15772244G>A | GRCh37 |
| NC_000001.9:g.15644831G>A | NCBI36 |
| NG_009253.1:g.12307G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.792G>A MANE Select | ENSP00000365116.4:p.Glu264= | |
| ENST00000375943.6:c.*246G>A | ENSP00000365110.2:n.*246G>A | |
| ENST00000375949.4:c.792G>A | ENSP00000365116.4:p.Glu264= | |
| ENST00000483406.1:n.556G>A | ||
| NM_007272.2:c.792G>A | NP_009203.2:p.Glu264= | |
| XM_011540550.1:c.646G>A | XP_011538852.1:p.Glu216Lys | |
| NM_007272.3:c.792G>A MANE Select | NP_009203.2:p.Glu264= |