Linked Data
dbSNP Id:
rs1282573720
gnomAD v2:
1-242011371-A-G
gnomAD v3:
1-241848069-A-G
gnomAD v4:
1-241848069-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241848069A>G , CM000663.2:g.241848069A>G | GRCh38 |
| NC_000001.10:g.242011371A>G , CM000663.1:g.242011371A>G | GRCh37 |
| NC_000001.9:g.240077994A>G | NCBI36 |
| NG_029100.1:g.4879A>G | |
| NG_029100.2:g.4879A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000519225.5:c.-446A>G | ENSP00000429720.1:n.-446A>G | |
| XM_011544322.1:c.-446A>G | XP_011542624.1:n.-446A>G |