Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63942937T>G , CM000679.2:g.63942937T>G | GRCh38 |
| NC_000017.10:g.62020297T>G , CM000679.1:g.62020297T>G | GRCh37 |
| NC_000017.9:g.59374029T>G | NCBI36 |
| NG_011699.1:g.34982A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.4177A>C MANE Select | ENSP00000396320.1:p.Ile1393Leu | |
| ENST00000578147.5:c.4177A>C | ENSP00000463963.1:p.Ile1393Leu | |
| NM_000334.4:c.4177A>C MANE Select | NP_000325.4:p.Ile1393Leu | |
| XM_005257566.3:c.4177A>C | XP_005257623.1:p.Ile1393Leu |