Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74756412C= , CM000677.2:g.74756412C= | GRCh38 |
| NC_000015.9:g.75048753C= , CM000677.1:g.75048753C= | GRCh37 |
| NC_000015.8:g.72835806C= | NCBI36 |
| NG_008431.1:g.38871C= | |
| NG_008431.2:g.38871C= | |
| NG_061543.1:g.12568C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000761.5:c.*1324C= MANE Select | NP_000752.2:n.*1324C= |
| ENST00000343932.5:c.*1324C= MANE Select | ENSP00000342007.4:n.*1324C= |
| NM_000761.4:c.*1324C= | NP_000752.2:n.*1324C= |