Linked Data
dbSNP Id:
rs10504390
gnomAD v2:
8-66624232-A-G
gnomAD v3:
8-65711997-A-G
gnomAD v4:
8-65711997-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.65711997A>G , CM000670.2:g.65711997A>G | GRCh38 |
| NC_000008.10:g.66624232A>G , CM000670.1:g.66624232A>G | GRCh37 |
| NC_000008.9:g.66786786A>G | NCBI36 |
| NG_047112.1:g.73125A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000518352.1:n.205+3986A>G | ||
| ENST00000520398.1:n.122+3986A>G | ||
| ENST00000521247.6:c.381+3986A>G | ENSP00000429253.2:n.381+3986A>G | |
| ENST00000523158.5:n.155+3986A>G | ||
| ENST00000527155.5:c.373+3986A>G | ||
| XM_006716484.2:c.933+3986A>G | XP_006716547.2:n.933+3986A>G | |
| XM_011517626.1:c.933+3986A>G | XP_011515928.1:n.933+3986A>G | |
| XM_011517627.1:c.933+3986A>G | XP_011515929.1:n.933+3986A>G | |
| XM_011517628.1:c.894+3986A>G | XP_011515930.1:n.894+3986A>G | |
| XM_011517626.2:c.933+3986A>G | XP_011515928.1:n.933+3986A>G | |
| XM_011517627.3:c.933+3986A>G | XP_011515929.1:n.933+3986A>G | |
| XM_011517628.2:c.894+3986A>G | XP_011515930.1:n.894+3986A>G |