Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154188047C>A , CM000685.2:g.154188047C>A | GRCh38 |
| NC_000023.10:g.153453536C>A , CM000685.1:g.153453536C>A | GRCh37 |
| NG_011606.1:g.10452C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000595290.6:c.390C>A MANE Select | ENSP00000472316.1:p.Gly130= | |
| ENST00000595290.5:c.390C>A | ENSP00000472316.1:p.Gly130= | |
| ENST00000595330.1:n.400C>A | ||
| NM_000513.2:c.390C>A MANE Select | NP_000504.1:p.Gly130= |