Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94983195C>T , CM000663.2:g.94983195C>T | GRCh38 |
| NC_000001.10:g.95448751C>T , CM000663.1:g.95448751C>T | GRCh37 |
| NC_000001.9:g.95221339C>T | NCBI36 |
| NG_042044.1:g.94757G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_144988.4:c.532G>A MANE Select | NP_659425.1:p.Val178Ile |
| ENST00000370205.6:c.532G>A MANE Select | ENSP00000359224.4:p.Val178Ile |
| NM_001305242.1:c.*101G>A | NP_001292171.1:n.*101G>A |
| NM_001305242.2:c.*101G>A | NP_001292171.1:n.*101G>A |
| NM_144988.3:c.532G>A | NP_659425.1:p.Val178Ile |
| NR_131032.1:n.433G>A | |
| NR_131032.2:n.433G>A | |
| ENST00000370205.5:c.532G>A | ENSP00000359224.4:p.Val178Ile |
| XR_001737024.1:n.728G>A | |
| XR_001737025.1:n.843G>A | |
| XR_946568.1:n.712G>A | |
| XR_946568.3:n.722G>A |