Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15930681G>A , CM000663.2:g.15930681G>A | GRCh38 |
| NC_000001.10:g.16257176G>A , CM000663.1:g.16257176G>A | GRCh37 |
| NC_000001.9:g.16129763G>A | NCBI36 |
| NG_050663.1:g.87818G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000438066.2:c.*5292G>A | ENSP00000388021.2:n.*5292G>A | |
| ENST00000704274.1:c.38G>A | ||
| ENST00000375759.8:c.4441G>A MANE Select | ENSP00000364912.3:p.Glu1481Lys | |
| ENST00000375759.7:c.4441G>A | ENSP00000364912.3:p.Glu1481Lys | |
| NM_015001.2:c.4441G>A | NP_055816.2:p.Glu1481Lys | |
| NM_015001.3:c.4441G>A MANE Select | NP_055816.2:p.Glu1481Lys |