Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.86044300T>G , CM000664.2:g.86044300T>G | GRCh38 |
| NC_000002.11:g.86271423T>G , CM000664.1:g.86271423T>G | GRCh37 |
| NC_000002.10:g.86124934T>G | NCBI36 |
| NG_050742.2:g.66856A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015425.6:c.2974A>C MANE Select | NP_056240.2:p.Ile992Leu |
| ENST00000263857.11:c.2974A>C MANE Select | ENSP00000263857.6:p.Ile992Leu |
| NM_015425.3:c.2974A>C | NP_056240.2:p.Ile992Leu |
| NM_015425.5:c.2974A>C | NP_056240.2:p.Ile992Leu |
| ENST00000263857.10:c.2974A>C | ENSP00000263857.6:p.Ile992Leu |
| ENST00000409681.1:c.2974A>C | ENSP00000386300.1:p.Ile992Leu |
| XM_006711983.2:c.2650A>C | XP_006712046.1:p.Ile884Leu |