Linked Data
ClinVar Variation Id:
521968
dbSNP Id:
rs1281778614
gnomAD v3:
8-93795448-G-A
gnomAD v4:
8-93795448-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93795448G>A , CM000670.2:g.93795448G>A | GRCh38 |
| NC_000008.10:g.94807676G>A , CM000670.1:g.94807676G>A | GRCh37 |
| NC_000008.9:g.94876852G>A | NCBI36 |
| NG_009190.1:g.45605G>A , LRG_688:g.45605G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.1714G>A | ENSP00000314488.4:p.Ala572Thr | |
| ENST00000409623.8:c.1669G>A | ENSP00000386966.4:p.Ala557Thr | |
| ENST00000452276.6:c.1714G>A | ENSP00000388671.2:p.Ala572Thr | |
| ENST00000453906.6:c.832G>A | ENSP00000403035.2:p.Ala278Thr | |
| ENST00000520680.2:c.1837G>A | ENSP00000428785.2:p.Ala613Thr | |
| ENST00000521517.6:c.1675-453G>A | ENSP00000430740.2:n.1675-453G>A | |
| ENST00000681998.1:c.1535G>A | ENSP00000506773.1:n.1535G>A | |
| ENST00000682036.1:c.955G>A | ENSP00000508390.1:p.Ala319Thr | |
| ENST00000682577.1:c.1487G>A | ENSP00000506963.1:n.1487G>A | |
| ENST00000682624.1:c.*1288G>A | ENSP00000508343.1:n.*1288G>A | |
| ENST00000682700.1:c.1714G>A | ENSP00000507627.1:p.Ala572Thr | |
| ENST00000682744.1:n.1252G>A | ||
| ENST00000682804.1:n.1537G>A | ||
| ENST00000682837.1:c.1203G>A | ENSP00000507920.1:n.1203G>A | |
| ENST00000682935.1:n.3764G>A | ||
| ENST00000682984.1:c.1375G>A | ENSP00000507209.1:p.Ala459Thr | |
| ENST00000683078.1:c.1469G>A | ENSP00000506796.1:n.1469G>A | |
| ENST00000683223.1:c.1446G>A | ENSP00000507685.1:n.1446G>A | |
| ENST00000683238.1:n.2938G>A | ||
| ENST00000683249.1:n.3311G>A | ||
| ENST00000683336.1:c.1535G>A | ENSP00000507695.1:n.1535G>A | |
| ENST00000683362.1:c.1375G>A | ENSP00000506985.1:p.Ala459Thr | |
| ENST00000683850.1:n.1637G>A | ||
| ENST00000683919.1:c.1644G>A | ENSP00000507617.1:n.1644G>A | |
| ENST00000683953.1:c.1625G>A | ENSP00000508375.1:n.1625G>A | |
| ENST00000684023.1:c.1691G>A | ENSP00000507461.1:n.1691G>A | |
| ENST00000684064.1:c.1405G>A | ENSP00000508192.1:p.Ala469Thr | |
| ENST00000684089.1:n.3264G>A | ||
| ENST00000684149.1:c.*893G>A | ENSP00000507943.1:n.*893G>A | |
| ENST00000684343.1:c.-90G>A | ENSP00000507591.1:n.-90G>A | |
| ENST00000684416.1:n.1673G>A | ||
| ENST00000684540.1:c.1644G>A | ENSP00000507987.1:n.1644G>A | |
| ENST00000453321.8:c.1714G>A MANE Select | ENSP00000389998.3:p.Ala572Thr | |
| ENST00000323130.7:c.1684G>A | ENSP00000314488.3:p.Ala562Thr | |
| ENST00000409623.7:c.1471G>A | ENSP00000386966.3:p.Ala491Thr | |
| ENST00000453321.7:c.1714G>A | ENSP00000389998.3:p.Ala572Thr | |
| ENST00000474944.5:n.852G>A | ||
| ENST00000519845.5:n.446G>A | ||
| ENST00000520680.1:c.659G>A | ||
| ENST00000523230.5:n.249G>A | ||
| NM_001142301.1:c.1471G>A , LRG_688t2:c.1471G>A | NP_001135773.1:p.Ala491Thr | |
| NM_153704.5:c.1714G>A , LRG_688t1:c.1714G>A | NP_714915.3:p.Ala572Thr | |
| NR_024522.1:n.1785G>A | ||
| XM_006716686.2:c.1411G>A | XP_006716749.1:p.Ala471Thr | |
| XM_006716687.2:c.1114G>A | XP_006716750.1:p.Ala372Thr | |
| XM_011517363.1:c.832G>A | XP_011515665.1:p.Ala278Thr | |
| XR_428387.1:n.1772G>A | ||
| XR_928360.1:n.1772G>A | ||
| XR_928361.1:n.1772G>A | ||
| XR_928362.1:n.1772G>A | ||
| XM_006716686.4:c.1411G>A | XP_006716749.1:p.Ala471Thr | |
| XM_011517363.3:c.832G>A | XP_011515665.1:p.Ala278Thr | |
| XM_024447326.1:c.1060G>A | XP_024303094.1:p.Ala354Thr | |
| XR_001745619.2:n.1755G>A | ||
| XR_428387.2:n.1755G>A | ||
| XR_928360.3:n.1755G>A | ||
| XR_928362.3:n.1755G>A | ||
| NM_153704.6:c.1714G>A MANE Select | NP_714915.3:p.Ala572Thr | |
| NR_024522.2:n.1735G>A |