Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.24800212C= , CM000666.2:g.24800212C= | GRCh38 |
| NC_000004.11:g.24801834C= , CM000666.1:g.24801834C= | GRCh37 |
| NC_000004.10:g.24410932C= | NCBI36 |
| NG_012213.1:g.9750C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003102.4:c.691C= MANE Select | NP_003093.2:p.Arg231= |
| ENST00000382120.4:c.691C= MANE Select | ENSP00000371554.3:p.Arg231= |
| NM_003102.2:c.691C= | NP_003093.2:p.Arg231= |
| NM_003102.3:c.691C= | NP_003093.2:p.Arg231= |
| ENST00000382120.3:c.691C= | ENSP00000371554.3:p.Arg231= |
| XR_427488.1:n.881C= |