Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18389060C>A , CM000670.2:g.18389060C>A | GRCh38 |
| NC_000008.10:g.18246570C>A , CM000670.1:g.18246570C>A | GRCh37 |
| NC_000008.9:g.18290850C>A | NCBI36 |
| NG_012246.1:g.2816C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_017012938.1:c.-7+2024C>A | XP_016868427.1:n.-7+2024C>A |