Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154187939C>G , CM000685.2:g.154187939C>G | GRCh38 |
| NC_000023.10:g.153453428C>G , CM000685.1:g.153453428C>G | GRCh37 |
| NG_011606.1:g.10344C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000513.2:c.282C>G MANE Select | NP_000504.1:p.Asn94Lys |
| ENST00000595290.6:c.282C>G MANE Select | ENSP00000472316.1:p.Asn94Lys |
| ENST00000595290.5:c.282C>G | ENSP00000472316.1:p.Asn94Lys |
| ENST00000595330.1:n.292C>G |