Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154187888C= , CM000685.2:g.154187888C= | GRCh38 |
| NC_000023.10:g.153453377C= , CM000685.1:g.153453377C= | GRCh37 |
| NG_011606.1:g.10293C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000595290.6:c.231C= MANE Select | ENSP00000472316.1:p.Ala77= | |
| ENST00000595290.5:c.231C= | ENSP00000472316.1:p.Ala77= | |
| ENST00000595330.1:n.241C= | ||
| NM_000513.2:c.231C= MANE Select | NP_000504.1:p.Ala77= |