Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38352540T>G , CM000685.2:g.38352540T>G | GRCh38 |
| NC_000023.10:g.38211793T>G , CM000685.1:g.38211793T>G | GRCh37 |
| NC_000023.9:g.38096737T>G | NCBI36 |
| NG_008471.1:g.5058T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000531.5:c.-157T>G | NP_000522.3:n.-157T>G |
| ENST00000465127.1:c.172-313581T>G | ENSP00000417050.1:n.172-313581T>G |
| XM_017029556.1:c.-157T>G | XP_016885045.1:n.-157T>G |