Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94762667G>C , CM000672.2:g.94762667G>C | GRCh38 |
| NC_000010.10:g.96522424G>C , CM000672.1:g.96522424G>C | GRCh37 |
| NC_000010.9:g.96512414G>C | NCBI36 |
| NG_008384.2:g.4962G>C | |
| NG_008384.3:g.4987G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.7:c.-39G>C | ENSP00000360372.3:n.-39G>C | |
| ENST00000464755.1:c.932-12391G>C | ENSP00000483243.1:n.932-12391G>C |