Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154187861C>G , CM000685.2:g.154187861C>G | GRCh38 |
| NC_000023.10:g.153453350C>G , CM000685.1:g.153453350C>G | GRCh37 |
| NG_011606.1:g.10266C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000595290.6:c.204C>G MANE Select | ENSP00000472316.1:p.Val68= | |
| ENST00000595290.5:c.204C>G | ENSP00000472316.1:p.Val68= | |
| ENST00000595330.1:n.214C>G | ||
| NM_000513.2:c.204C>G MANE Select | NP_000504.1:p.Val68= |