Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.15999718G>C , CM000679.2:g.15999718G>C | GRCh38 |
| NC_000017.10:g.15903032G>C , CM000679.1:g.15903032G>C | GRCh37 |
| NC_000017.9:g.15843757G>C | NCBI36 |
| NG_029806.1:g.5339G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261647.9:c.-131G>C | ENSP00000261647.5:n.-131G>C | |
| NM_001271420.1:c.-589G>C | NP_001258349.1:n.-589G>C | |
| NM_017775.3:c.-131G>C | NP_060245.3:n.-131G>C |