Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.220878461C>A , CM000663.2:g.220878461C>A | GRCh38 |
| NC_000001.10:g.221051803C>A , CM000663.1:g.221051803C>A | GRCh37 |
| NC_000001.9:g.219118426C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651706.1:c.843-2733C>A | ENSP00000499157.1:n.843-2733C>A | |
| NR_046901.1:n.292+1388G>T | ||
| XM_011510307.1:c.598G>T | XP_011508609.1:p.Ala200Ser |