Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.74594368A>C , CM000685.2:g.74594368A>C | GRCh38 |
| NC_000023.10:g.73814203A>C , CM000685.1:g.73814203A>C | GRCh37 |
| NC_000023.9:g.73730928A>C | NCBI36 |
| NG_013258.1:g.25259T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016120.4:c.191T>G MANE Select | NP_057204.2:p.Leu64Trp |
| ENST00000332687.11:c.191T>G MANE Select | ENSP00000328059.6:p.Leu64Trp |
| NM_016120.3:c.191T>G | NP_057204.2:p.Leu64Trp |
| NM_183353.2:c.191T>G | NP_899196.1:p.Leu64Trp |
| NM_183353.3:c.191T>G | NP_899196.1:p.Leu64Trp |
| ENST00000332687.10:c.191T>G | ENSP00000328059.6:p.Leu64Trp |
| ENST00000349225.2:c.191T>G | ENSP00000253571.3:p.Leu64Trp |