Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74755111C= , CM000677.2:g.74755111C= | GRCh38 |
| NC_000015.9:g.75047452C= , CM000677.1:g.75047452C= | GRCh37 |
| NC_000015.8:g.72834505C= | NCBI36 |
| NG_008431.1:g.37570C= | |
| NG_008431.2:g.37570C= | |
| NG_061543.1:g.11267C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.*23C= MANE Select | ENSP00000342007.4:n.*23C= | |
| ENST00000343932.4:c.*23C= | ENSP00000342007.4:n.*23C= | |
| NM_000761.4:c.*23C= | NP_000752.2:n.*23C= | |
| NM_000761.5:c.*23C= MANE Select | NP_000752.2:n.*23C= |