Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31268976G= , CM000668.2:g.31268976G= | GRCh38 |
| NC_000006.11:g.31236753G= , CM000668.1:g.31236753G= | GRCh37 |
| NC_000006.10:g.31344732G= | NCBI36 |
| NG_029422.2:g.8156C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.*193C= MANE Select | ENSP00000365402.5:n.*193C= | |
| ENST00000376228.9:c.*193C= | ENSP00000365402.5:n.*193C= | |
| ENST00000376237.8:c.*881C= | ENSP00000365412.4:n.*881C= | |
| ENST00000383329.7:c.*193C= | ENSP00000372819.3:n.*193C= | |
| ENST00000466892.5:n.527C= | ||
| ENST00000470363.5:n.1052C= | ||
| ENST00000487245.5:n.1653C= | ||
| NM_002117.5:c.*193C= | NP_002108.4:n.*193C= | |
| NM_002117.6:c.*193C= MANE Select | NP_002108.4:n.*193C= |