Linked Data
ClinVar Variation Id:
216826
dbSNP Id:
rs775883520
ExAC:
8:94792831 A / G
gnomAD v2:
8-94792831-A-G
gnomAD v3:
8-93780603-A-G
gnomAD v4:
8-93780603-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93780603A>G , CM000670.2:g.93780603A>G | GRCh38 |
| NC_000008.10:g.94792831A>G , CM000670.1:g.94792831A>G | GRCh37 |
| NC_000008.9:g.94862007A>G | NCBI36 |
| NG_009190.1:g.30760A>G , LRG_688:g.30760A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.725A>G | ENSP00000314488.4:p.Asn242Ser | |
| ENST00000409623.8:c.725A>G | ENSP00000386966.4:p.Asn242Ser | |
| ENST00000452276.6:c.725A>G | ENSP00000388671.2:p.Asn242Ser | |
| ENST00000453906.6:c.407-5620A>G | ENSP00000403035.2:n.407-5620A>G | |
| ENST00000520680.2:c.725A>G | ENSP00000428785.2:p.Asn242Ser | |
| ENST00000521065.2:c.*442A>G | ENSP00000427947.2:n.*442A>G | |
| ENST00000521517.6:c.725A>G | ENSP00000430740.2:p.Asn242Ser | |
| ENST00000681998.1:c.655A>G | ENSP00000506773.1:n.655A>G | |
| ENST00000682036.1:c.407-5620A>G | ENSP00000508390.1:n.407-5620A>G | |
| ENST00000682577.1:c.655A>G | ENSP00000506963.1:n.655A>G | |
| ENST00000682624.1:c.*299A>G | ENSP00000508343.1:n.*299A>G | |
| ENST00000682700.1:c.725A>G | ENSP00000507627.1:p.Asn242Ser | |
| ENST00000682744.1:n.263A>G | ||
| ENST00000682804.1:n.548A>G | ||
| ENST00000682837.1:c.480A>G | ENSP00000507920.1:p.Gln160= | |
| ENST00000682935.1:n.2285A>G | ||
| ENST00000682984.1:c.386A>G | ENSP00000507209.1:p.Asn129Ser | |
| ENST00000683078.1:c.480A>G | ENSP00000506796.1:p.Gln160= | |
| ENST00000683223.1:c.566A>G | ENSP00000507685.1:n.566A>G | |
| ENST00000683238.1:n.2106A>G | ||
| ENST00000683249.1:n.2306A>G | ||
| ENST00000683336.1:c.655A>G | ENSP00000507695.1:n.655A>G | |
| ENST00000683362.1:c.386A>G | ENSP00000506985.1:p.Asn129Ser | |
| ENST00000683850.1:n.648A>G | ||
| ENST00000683919.1:c.655A>G | ENSP00000507617.1:n.655A>G | |
| ENST00000683953.1:c.636A>G | ENSP00000508375.1:n.636A>G | |
| ENST00000684023.1:c.859A>G | ENSP00000507461.1:n.859A>G | |
| ENST00000684064.1:c.416A>G | ENSP00000508192.1:p.Asn139Ser | |
| ENST00000684089.1:n.2275A>G | ||
| ENST00000684149.1:c.*61A>G | ENSP00000507943.1:n.*61A>G | |
| ENST00000684416.1:n.684A>G | ||
| ENST00000684540.1:c.655A>G | ENSP00000507987.1:n.655A>G | |
| ENST00000453321.8:c.725A>G MANE Select | ENSP00000389998.3:p.Asn242Ser | |
| ENST00000323130.7:c.695A>G | ENSP00000314488.3:p.Asn232Ser | |
| ENST00000409623.7:c.482A>G | ENSP00000386966.3:p.Asn161Ser | |
| ENST00000425545.2:n.172A>G | ||
| ENST00000452276.5:c.416A>G | ENSP00000388671.1:p.Asn139Ser | |
| ENST00000453321.7:c.725A>G | ENSP00000389998.3:p.Asn242Ser | |
| ENST00000453906.5:c.407-5620A>G | ENSP00000403035.1:n.407-5620A>G | |
| ENST00000474944.5:n.427-5620A>G | ||
| ENST00000496213.5:n.190A>G | ||
| NM_001142301.1:c.482A>G , LRG_688t2:c.482A>G | NP_001135773.1:p.Asn161Ser | |
| NM_153704.5:c.725A>G , LRG_688t1:c.725A>G | NP_714915.3:p.Asn242Ser | |
| NR_024522.1:n.796A>G | ||
| XM_006716686.2:c.422A>G | XP_006716749.1:p.Asn141Ser | |
| XM_006716687.2:c.125A>G | XP_006716750.1:p.Asn42Ser | |
| XM_011517363.1:c.407-5620A>G | XP_011515665.1:n.407-5620A>G | |
| XR_428387.1:n.783A>G | ||
| XR_928360.1:n.783A>G | ||
| XR_928361.1:n.783A>G | ||
| XR_928362.1:n.783A>G | ||
| XM_006716686.4:c.422A>G | XP_006716749.1:p.Asn141Ser | |
| XM_011517363.3:c.407-5620A>G | XP_011515665.1:n.407-5620A>G | |
| XM_024447326.1:c.71A>G | XP_024303094.1:p.Asn24Ser | |
| XR_001745619.2:n.766A>G | ||
| XR_428387.2:n.766A>G | ||
| XR_928360.3:n.766A>G | ||
| XR_928362.3:n.766A>G | ||
| NM_153704.6:c.725A>G MANE Select | NP_714915.3:p.Asn242Ser | |
| NR_024522.2:n.746A>G |