Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63941939C>A , CM000679.2:g.63941939C>A | GRCh38 |
| NC_000017.10:g.62019299C>A , CM000679.1:g.62019299C>A | GRCh37 |
| NC_000017.9:g.59373031C>A | NCBI36 |
| NG_011699.1:g.35980G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000334.4:c.4343G>T MANE Select | NP_000325.4:p.Arg1448Leu |
| ENST00000435607.3:c.4343G>T MANE Select | ENSP00000396320.1:p.Arg1448Leu |
| ENST00000578147.5:c.4343G>T | ENSP00000463963.1:p.Arg1448Leu |
| XM_005257566.3:c.4343G>T | XP_005257623.1:p.Arg1448Leu |