Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63964671G>A , CM000679.2:g.63964671G>A | GRCh38 |
| NC_000017.10:g.62042031G>A , CM000679.1:g.62042031G>A | GRCh37 |
| NC_000017.9:g.59395763G>A | NCBI36 |
| NG_011699.1:g.13248C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000334.4:c.1249C>T MANE Select | NP_000325.4:p.Arg417Ter |
| ENST00000435607.3:c.1249C>T MANE Select | ENSP00000396320.1:p.Arg417Ter |
| ENST00000578147.5:c.1249C>T | ENSP00000463963.1:p.Arg417Ter |
| XM_005257566.3:c.1249C>T | XP_005257623.1:p.Arg417Ter |
| XR_001752969.1:n.1553+21G>A | |
| XR_001752970.1:n.505+21G>A | |
| XR_934910.1:n.276+21G>A | |
| XR_934910.2:n.1428+21G>A |