Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.185254180C>G , CM000665.2:g.185254180C>G | GRCh38 |
| NC_000003.11:g.184971968C>G , CM000665.1:g.184971968C>G | GRCh37 |
| NC_000003.10:g.186454662C>G | NCBI36 |
| NG_015999.1:g.4919G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465178.1:n.228-5663G>C | ||
| XM_011512517.1:c.-214-5663G>C | XP_011510819.1:n.-214-5663G>C |