Linked Data
ClinVar Variation Id:
1170882
dbSNP Id:
rs2228420
ExAC:
1:67852335 G / A
gnomAD v2:
1-67852335-G-A
gnomAD v3:
1-67386652-G-A
gnomAD v4:
1-67386652-G-A
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.67386652G>A , CM000663.2:g.67386652G>A | GRCh38 |
| NC_000001.10:g.67852335G>A , CM000663.1:g.67852335G>A | GRCh37 |
| NC_000001.9:g.67624923G>A | NCBI36 |
| NG_032977.1:g.84289G>A | |
| NG_032977.2:g.84302G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696754.1:c.1855+6529G>A | ENSP00000512852.1:n.1855+6529G>A | |
| ENST00000696755.1:c.1855+6529G>A | ENSP00000512853.1:n.1855+6529G>A | |
| ENST00000696757.1:c.1929G>A | ENSP00000512854.1:p.Thr643= | |
| ENST00000696758.1:c.*1044-3377G>A | ENSP00000512855.1:n.*1044-3377G>A | |
| ENST00000696759.1:c.1856-3377G>A | ENSP00000512856.1:n.1856-3377G>A | |
| ENST00000696763.1:n.1021G>A | ||
| ENST00000541374.6:c.1597+6529G>A | ENSP00000445276.3:n.1597+6529G>A | |
| ENST00000648487.1:c.1929G>A | ENSP00000497959.1:p.Thr643= | |
| ENST00000674203.2:c.1929G>A MANE Select | ENSP00000501329.1:p.Thr643= | |
| ENST00000262345.5:c.1929G>A | ENSP00000262345.1:p.Thr643= | |
| ENST00000371000.5:c.1929G>A | ENSP00000360039.1:p.Thr643= | |
| ENST00000465396.1:n.270G>A | ||
| ENST00000541374.5:c.1855+6529G>A | ENSP00000445276.2:n.1855+6529G>A | |
| ENST00000544434.5:c.1671G>A | ENSP00000442443.1:p.Thr557= | |
| NM_001258214.1:c.1929G>A | NP_001245143.1:p.Thr643= | |
| NM_001258215.1:c.1671G>A | NP_001245144.1:p.Thr557= | |
| NM_001258216.1:c.1855+6529G>A | NP_001245145.1:n.1855+6529G>A | |
| NM_001559.2:c.1929G>A | NP_001550.1:p.Thr643= | |
| NR_047583.1:n.2337-3377G>A | ||
| NR_047584.1:n.2569G>A | ||
| XM_005270825.1:c.1929G>A | XP_005270882.1:p.Thr643= | |
| XM_005270827.1:c.1929G>A | XP_005270884.1:p.Thr643= | |
| XM_005270828.2:c.1929G>A | XP_005270885.1:p.Thr643= | |
| XM_006710617.1:c.1671G>A | XP_006710680.1:p.Thr557= | |
| XM_011541383.1:c.1929G>A | XP_011539685.1:p.Thr643= | |
| XM_011541384.1:c.1770G>A | XP_011539686.1:p.Thr590= | |
| XM_011541385.1:c.1929G>A | XP_011539687.1:p.Thr643= | |
| NM_001319233.1:c.1929G>A | NP_001306162.1:p.Thr643= | |
| XM_005270825.2:c.1929G>A | XP_005270882.1:p.Thr643= | |
| XM_005270827.2:c.1929G>A | XP_005270884.1:p.Thr643= | |
| XM_005270828.3:c.1929G>A | XP_005270885.1:p.Thr643= | |
| XM_006710617.2:c.1671G>A | XP_006710680.1:p.Thr557= | |
| XM_011541383.2:c.1929G>A | XP_011539685.1:p.Thr643= | |
| XM_011541384.2:c.1770G>A | XP_011539686.1:p.Thr590= | |
| XM_017001203.1:c.1929G>A | XP_016856692.1:p.Thr643= | |
| NM_001374259.2:c.1929G>A MANE Select | NP_001361188.1:p.Thr643= | |
| NM_001559.3:c.1929G>A | NP_001550.1:p.Thr643= |