Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63966200G>T , CM000679.2:g.63966200G>T | GRCh38 |
| NC_000017.10:g.62043560G>T , CM000679.1:g.62043560G>T | GRCh37 |
| NC_000017.9:g.59397292G>T | NCBI36 |
| NG_011699.1:g.11719C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000334.4:c.1144C>A MANE Select | NP_000325.4:p.Pro382Thr |
| ENST00000435607.3:c.1144C>A MANE Select | ENSP00000396320.1:p.Pro382Thr |
| ENST00000578147.5:c.1144C>A | ENSP00000463963.1:p.Pro382Thr |
| XM_005257566.3:c.1144C>A | XP_005257623.1:p.Pro382Thr |
| XR_001752969.1:n.1554-305G>T | |
| XR_001752970.1:n.506-305G>T | |
| XR_934910.1:n.277-305G>T | |
| XR_934910.2:n.1429-305G>T |