Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154190173T= , CM000685.2:g.154190173T= | GRCh38 |
| NC_000023.10:g.153455662T= , CM000685.1:g.153455662T= | GRCh37 |
| NG_011606.1:g.12578T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000513.2:c.529T= MANE Select | NP_000504.1:p.Trp177= |
| ENST00000595290.6:c.529T= MANE Select | ENSP00000472316.1:p.Trp177= |
| ENST00000595290.5:c.529T= | ENSP00000472316.1:p.Trp177= |
| ENST00000595330.1:n.539T= | |
| ENST00000596998.2:c.116T= |