Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.12885540A>T , CM000685.2:g.12885540A>T | GRCh38 |
| NC_000023.10:g.12903659A>T , CM000685.1:g.12903659A>T | GRCh37 |
| NC_000023.9:g.12813580A>T | NCBI36 |
| NG_012569.1:g.23458A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016562.4:c.32A>T MANE Select | NP_057646.1:p.Gln11Leu |
| ENST00000380659.4:c.32A>T MANE Select | ENSP00000370034.3:p.Gln11Leu |
| NM_016562.3:c.32A>T | NP_057646.1:p.Gln11Leu |
| ENST00000380659.3:c.32A>T | ENSP00000370034.3:p.Gln11Leu |