Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94762631C>T , CM000672.2:g.94762631C>T | GRCh38 |
| NC_000010.10:g.96522388C>T , CM000672.1:g.96522388C>T | GRCh37 |
| NC_000010.9:g.96512378C>T | NCBI36 |
| NG_008384.2:g.4926C>T | |
| NG_008384.3:g.4951C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371321.7:c.-75C>T | ENSP00000360372.3:n.-75C>T | |
| ENST00000464755.1:c.932-12427C>T | ENSP00000483243.1:n.932-12427C>T |