Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42132687T>C , CM000684.2:g.42132687T>C | GRCh38 |
| NC_000022.10:g.42528694T>C , CM000684.1:g.42528694T>C | GRCh37 |
| NC_000022.9:g.40858638T>C | NCBI36 |
| NG_008376.3:g.2305A>G | |
| NG_008376.4:g.3124A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000417586.1:n.145T>C | ||
| XM_011529967.1:c.-1045-851A>G | XP_011528269.1:n.-1045-851A>G |