Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189041605A>G , CM000664.2:g.189041605A>G | GRCh38 |
| NC_000002.11:g.189906331A>G , CM000664.1:g.189906331A>G | GRCh37 |
| NC_000002.10:g.189614576A>G | NCBI36 |
| NG_011799.1:g.143275T>C | |
| NG_011799.2:g.143275T>C | |
| NG_011799.3:g.188697T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000393.5:c.3614T>C MANE Select | NP_000384.2:p.Val1205Ala |
| ENST00000374866.9:c.3614T>C MANE Select | ENSP00000364000.3:p.Val1205Ala |
| NM_000393.3:c.3614T>C | NP_000384.2:p.Val1205Ala |
| NM_000393.4:c.3614T>C | NP_000384.2:p.Val1205Ala |
| ENST00000374866.7:c.3614T>C | ENSP00000364000.3:p.Val1205Ala |
| ENST00000618828.1:c.2453T>C | ENSP00000482184.1:p.Val818Ala |
| XM_011510573.1:c.3476T>C | XP_011508875.1:p.Val1159Ala |
| XM_011510573.3:c.3476T>C | XP_011508875.1:p.Val1159Ala |