Linked Data
dbSNP Id:
rs1012018427
gnomAD v2:
1-221051813-T-G
gnomAD v3:
1-220878471-T-G
gnomAD v4:
1-220878471-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.220878471T>G , CM000663.2:g.220878471T>G | GRCh38 |
| NC_000001.10:g.221051813T>G , CM000663.1:g.221051813T>G | GRCh37 |
| NC_000001.9:g.219118436T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651706.1:c.843-2723T>G | ENSP00000499157.1:n.843-2723T>G | |
| NR_046901.1:n.292+1378A>C | ||
| XM_011510307.1:c.588A>C | XP_011508609.1:p.Gly196= |