Linked Data
dbSNP Id:
rs1569105450
gnomAD v2:
22-51135972-A-G
gnomAD v3:
22-50697544-A-G
gnomAD v4:
22-50697544-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50697544A>G , CM000684.2:g.50697544A>G | GRCh38 |
| NC_000022.10:g.51135972A>G , CM000684.1:g.51135972A>G | GRCh37 |
| NC_000022.9:g.49482838A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262795.7:c.948-20A>G | ENSP00000489147.2:n.948-20A>G | |
| ENST00000414786.7:n.1532-20A>G | ||
| ENST00000673971.2:c.1305-20A>G | ENSP00000501192.1:n.1305-20A>G | |
| ENST00000262795.6:c.948-20A>G | ENSP00000489147.2:n.948-20A>G | |
| ENST00000673971.1:c.1305-20A>G | ENSP00000501192.1:n.1305-20A>G | |
| ENST00000262795.5:c.1345-21A>G | ENSP00000489147.1:n.1345-21A>G | |
| ENST00000414786.6:n.1532-20A>G | ||
| ENST00000445220.5:c.1326-20A>G | ENSP00000489407.1:n.1326-20A>G |