Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.86030346C>T , CM000664.2:g.86030346C>T | GRCh38 |
| NC_000002.11:g.86257469C>T , CM000664.1:g.86257469C>T | GRCh37 |
| NC_000002.10:g.86110980C>T | NCBI36 |
| NG_050742.2:g.80810G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263857.11:c.4629G>A MANE Select | ENSP00000263857.6:p.Leu1543= | |
| ENST00000263857.10:c.4629G>A | ENSP00000263857.6:p.Leu1543= | |
| ENST00000409681.1:c.4446G>A | ENSP00000386300.1:p.Leu1482= | |
| NM_015425.3:c.4629G>A | NP_056240.2:p.Leu1543= | |
| XM_006711983.2:c.4305G>A | XP_006712046.1:p.Leu1435= | |
| NM_015425.5:c.4629G>A | NP_056240.2:p.Leu1543= | |
| NM_015425.6:c.4629G>A MANE Select | NP_056240.2:p.Leu1543= |