Linked Data
dbSNP Id:
rs1220487597
gnomAD v2:
1-221051755-G-T
gnomAD v3:
1-220878413-G-T
gnomAD v4:
1-220878413-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.220878413G>T , CM000663.2:g.220878413G>T | GRCh38 |
| NC_000001.10:g.221051755G>T , CM000663.1:g.221051755G>T | GRCh37 |
| NC_000001.9:g.219118378G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651706.1:c.843-2781G>T | ENSP00000499157.1:n.843-2781G>T | |
| NR_046901.1:n.292+1436C>A | ||
| XM_011510307.1:c.646C>A | XP_011508609.1:p.Pro216Thr |