Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.220878450C>G , CM000663.2:g.220878450C>G | GRCh38 |
| NC_000001.10:g.221051792C>G , CM000663.1:g.221051792C>G | GRCh37 |
| NC_000001.9:g.219118415C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_046901.1:n.292+1399G>C | |
| ENST00000651706.1:c.843-2744C>G | ENSP00000499157.1:n.843-2744C>G |
| XM_011510307.1:c.609G>C | XP_011508609.1:p.Gln203His |