Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99420602C>A , CM000666.2:g.99420602C>A | GRCh38 |
| NC_000004.11:g.100341759C>A , CM000666.1:g.100341759C>A | GRCh37 |
| NC_000004.10:g.100560782C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437033.7:c.756G>T MANE Select | ENSP00000414254.2:p.Glu252Asp | |
| ENST00000209665.8:c.792G>T | ENSP00000209665.4:p.Glu264Asp | |
| ENST00000437033.6:c.756G>T | ENSP00000414254.2:p.Glu252Asp | |
| ENST00000476959.5:c.816G>T | ENSP00000420269.1:p.Glu272Asp | |
| ENST00000482593.5:c.585G>T | ENSP00000420613.1:p.Glu195Asp | |
| NM_000673.4:c.792G>T | NP_000664.2:p.Glu264Asp | |
| NM_001166504.1:c.816G>T | NP_001159976.1:p.Glu272Asp | |
| NM_000673.7:c.756G>T MANE Select | NP_000664.3:p.Glu252Asp | |
| NM_001166504.2:c.816G>T | NP_001159976.1:p.Glu272Asp |