Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63966219G>T , CM000679.2:g.63966219G>T | GRCh38 |
| NC_000017.10:g.62043579G>T , CM000679.1:g.62043579G>T | GRCh37 |
| NC_000017.9:g.59397311G>T | NCBI36 |
| NG_011699.1:g.11700C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000334.4:c.1125C>A MANE Select | NP_000325.4:p.Cys375Ter |
| ENST00000435607.3:c.1125C>A MANE Select | ENSP00000396320.1:p.Cys375Ter |
| ENST00000578147.5:c.1125C>A | ENSP00000463963.1:p.Cys375Ter |
| XM_005257566.3:c.1125C>A | XP_005257623.1:p.Cys375Ter |
| XR_001752969.1:n.1554-286G>T | |
| XR_001752970.1:n.506-286G>T | |
| XR_934910.1:n.277-286G>T | |
| XR_934910.2:n.1429-286G>T |