Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18388798T>G , CM000670.2:g.18388798T>G | GRCh38 |
| NC_000008.10:g.18246308T>G , CM000670.1:g.18246308T>G | GRCh37 |
| NC_000008.9:g.18290588T>G | NCBI36 |
| NG_012246.1:g.2554T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_017012938.1:c.-7+1762T>G | XP_016868427.1:n.-7+1762T>G |