Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41612768G>A , CM000679.2:g.41612768G>A | GRCh38 |
| NC_000017.10:g.39769020G>A , CM000679.1:g.39769020G>A | GRCh37 |
| NC_000017.9:g.37022546G>A | NCBI36 |
| NG_008301.1:g.5060C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000590990.1:c.-36-44C>T | ENSP00000467105.1:n.-36-44C>T | |
| ENST00000593067.1:c.-313+22C>T | ENSP00000467124.1:n.-313+22C>T | |
| NM_005557.3:c.-80C>T | NP_005548.2:n.-80C>T |