Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74749591G>C , CM000677.2:g.74749591G>C | GRCh38 |
| NC_000015.9:g.75041932G>C , CM000677.1:g.75041932G>C | GRCh37 |
| NC_000015.8:g.72828985G>C | NCBI36 |
| NG_008431.1:g.32050G>C | |
| NG_008431.2:g.32050G>C | |
| NG_061543.1:g.5747G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.-9-139G>C MANE Select | ENSP00000342007.4:n.-9-139G>C | |
| ENST00000343932.4:c.-9-139G>C | ENSP00000342007.4:n.-9-139G>C | |
| NM_000761.4:c.-9-139G>C | NP_000752.2:n.-9-139G>C | |
| NM_000761.5:c.-9-139G>C MANE Select | NP_000752.2:n.-9-139G>C |