Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.185254080G>C , CM000665.2:g.185254080G>C | GRCh38 |
| NC_000003.11:g.184971868G>C , CM000665.1:g.184971868G>C | GRCh37 |
| NC_000003.10:g.186454562G>C | NCBI36 |
| NG_015999.1:g.5019C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231887.7:c.-58C>G | ENSP00000231887.3:n.-58C>G | |
| ENST00000465178.1:n.228-5563C>G | ||
| NM_001166415.1:c.-469C>G | NP_001159887.1:n.-469C>G | |
| NM_001966.3:c.-58C>G | NP_001957.2:n.-58C>G | |
| XM_011512517.1:c.-214-5563C>G | XP_011510819.1:n.-214-5563C>G |