Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99420668C>G , CM000666.2:g.99420668C>G | GRCh38 |
| NC_000004.11:g.100341825C>G , CM000666.1:g.100341825C>G | GRCh37 |
| NC_000004.10:g.100560848C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437033.7:c.690G>C MANE Select | ENSP00000414254.2:p.Glu230Asp | |
| ENST00000209665.8:c.726G>C | ENSP00000209665.4:p.Glu242Asp | |
| ENST00000437033.6:c.690G>C | ENSP00000414254.2:p.Glu230Asp | |
| ENST00000476959.5:c.750G>C | ENSP00000420269.1:p.Glu250Asp | |
| ENST00000482593.5:c.519G>C | ENSP00000420613.1:p.Glu173Asp | |
| NM_000673.4:c.726G>C | NP_000664.2:p.Glu242Asp | |
| NM_001166504.1:c.750G>C | NP_001159976.1:p.Glu250Asp | |
| NM_000673.7:c.690G>C MANE Select | NP_000664.3:p.Glu230Asp | |
| NM_001166504.2:c.750G>C | NP_001159976.1:p.Glu250Asp |