Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154187948C= , CM000685.2:g.154187948C= | GRCh38 |
| NC_000023.10:g.153453437C= , CM000685.1:g.153453437C= | GRCh37 |
| NG_011606.1:g.10353C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000595290.6:c.291C= MANE Select | ENSP00000472316.1:p.Val97= | |
| ENST00000595290.5:c.291C= | ENSP00000472316.1:p.Val97= | |
| ENST00000595330.1:n.301C= | ||
| NM_000513.2:c.291C= MANE Select | NP_000504.1:p.Val97= |