Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.119936420T>C , CM000685.2:g.119936420T>C | GRCh38 |
| NC_000023.10:g.119070383T>C , CM000685.1:g.119070383T>C | GRCh37 |
| NC_000023.9:g.118954411T>C | NCBI36 |
| NG_021260.1:g.12353A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024528.4:c.550A>G MANE Select | NP_078804.2:p.Lys184Glu |
| ENST00000371410.5:c.550A>G MANE Select | ENSP00000360464.3:p.Lys184Glu |
| NM_024528.3:c.550A>G | NP_078804.2:p.Lys184Glu |
| ENST00000371410.4:c.550A>G | ENSP00000360464.3:p.Lys184Glu |
| ENST00000477789.5:n.1478A>G | |
| ENST00000652253.1:c.546A>G | |
| XM_017029842.1:c.253A>G | XP_016885331.1:p.Lys85Glu |