Linked Data
dbSNP Id:
rs1674353593
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.220878386C>A , CM000663.2:g.220878386C>A | GRCh38 |
| NC_000001.10:g.221051728C>A , CM000663.1:g.221051728C>A | GRCh37 |
| NC_000001.9:g.219118351C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651706.1:c.843-2808C>A | ENSP00000499157.1:n.843-2808C>A | |
| NR_046901.1:n.292+1463G>T | ||
| XM_011510307.1:c.673G>T | XP_011508609.1:p.Gly225Cys |