Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94762644G>C , CM000672.2:g.94762644G>C | GRCh38 |
| NC_000010.10:g.96522401G>C , CM000672.1:g.96522401G>C | GRCh37 |
| NC_000010.9:g.96512391G>C | NCBI36 |
| NG_008384.2:g.4939G>C | |
| NG_008384.3:g.4964G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371321.7:c.-62G>C | ENSP00000360372.3:n.-62G>C | |
| ENST00000464755.1:c.932-12414G>C | ENSP00000483243.1:n.932-12414G>C |