Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99420599C>T , CM000666.2:g.99420599C>T | GRCh38 |
| NC_000004.11:g.100341756C>T , CM000666.1:g.100341756C>T | GRCh37 |
| NC_000004.10:g.100560779C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437033.7:c.759G>A MANE Select | ENSP00000414254.2:p.Val253= | |
| ENST00000209665.8:c.795G>A | ENSP00000209665.4:p.Val265= | |
| ENST00000437033.6:c.759G>A | ENSP00000414254.2:p.Val253= | |
| ENST00000476959.5:c.819G>A | ENSP00000420269.1:p.Val273= | |
| ENST00000482593.5:c.588G>A | ENSP00000420613.1:p.Val196= | |
| NM_000673.4:c.795G>A | NP_000664.2:p.Val265= | |
| NM_001166504.1:c.819G>A | NP_001159976.1:p.Val273= | |
| NM_000673.7:c.759G>A MANE Select | NP_000664.3:p.Val253= | |
| NM_001166504.2:c.819G>A | NP_001159976.1:p.Val273= |