Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4862808C= , CM000666.2:g.4862808C= | GRCh38 |
| NC_000004.11:g.4864535C= , CM000666.1:g.4864535C= | GRCh37 |
| NC_000004.10:g.4915436C= | NCBI36 |
| NG_008121.1:g.8144C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002448.3:c.577C= MANE Select | NP_002439.2:p.Gln193= |
| ENST00000382723.5:c.577C= MANE Select | ENSP00000372170.4:p.Gln193= |
| ENST00000382723.4:c.577C= | ENSP00000372170.4:p.Gln193= |
| ENST00000468421.1:n.289C= |