Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63941053T>C , CM000679.2:g.63941053T>C | GRCh38 |
| NC_000017.10:g.62018413T>C , CM000679.1:g.62018413T>C | GRCh37 |
| NC_000017.9:g.59372145T>C | NCBI36 |
| NG_011699.1:g.36866A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000334.4:c.5229A>G MANE Select | NP_000325.4:p.Leu1743= |
| ENST00000435607.3:c.5229A>G MANE Select | ENSP00000396320.1:p.Leu1743= |
| ENST00000578147.5:c.5229A>G | ENSP00000463963.1:p.Leu1743= |
| XM_005257566.3:c.5229A>G | XP_005257623.1:p.Leu1743= |