Linked Data
dbSNP Id:
rs3806325
gnomAD v2:
1-221051792-C-T
gnomAD v3:
1-220878450-C-T
gnomAD v4:
1-220878450-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.220878450C>T , CM000663.2:g.220878450C>T | GRCh38 |
| NC_000001.10:g.221051792C>T , CM000663.1:g.221051792C>T | GRCh37 |
| NC_000001.9:g.219118415C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000651706.1:c.843-2744C>T | ENSP00000499157.1:n.843-2744C>T | |
| NR_046901.1:n.292+1399G>A | ||
| XM_011510307.1:c.609G>A | XP_011508609.1:p.Gln203= |