Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94762627C>A , CM000672.2:g.94762627C>A | GRCh38 |
| NC_000010.10:g.96522384C>A , CM000672.1:g.96522384C>A | GRCh37 |
| NC_000010.9:g.96512374C>A | NCBI36 |
| NG_008384.2:g.4922C>A | |
| NG_008384.3:g.4947C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.7:c.-79C>A | ENSP00000360372.3:n.-79C>A | |
| ENST00000464755.1:c.932-12431C>A | ENSP00000483243.1:n.932-12431C>A |