Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94762628A>G , CM000672.2:g.94762628A>G | GRCh38 |
| NC_000010.10:g.96522385A>G , CM000672.1:g.96522385A>G | GRCh37 |
| NC_000010.9:g.96512375A>G | NCBI36 |
| NG_008384.2:g.4923A>G | |
| NG_008384.3:g.4948A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.7:c.-78A>G | ENSP00000360372.3:n.-78A>G | |
| ENST00000464755.1:c.932-12430A>G | ENSP00000483243.1:n.932-12430A>G |