Linked Data
ClinVar Variation Id:
1449645
ClinVar RCV Id:
RCV001989730
dbSNP Id:
rs369178053
ExAC:
8:94792872 A / G
gnomAD v2:
8-94792872-A-G
gnomAD v3:
8-93780644-A-G
gnomAD v4:
8-93780644-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93780644A>G , CM000670.2:g.93780644A>G | GRCh38 |
| NC_000008.10:g.94792872A>G , CM000670.1:g.94792872A>G | GRCh37 |
| NC_000008.9:g.94862048A>G | NCBI36 |
| NG_009190.1:g.30801A>G , LRG_688:g.30801A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.766A>G | ENSP00000314488.4:p.Asn256Asp | |
| ENST00000409623.8:c.766A>G | ENSP00000386966.4:p.Asn256Asp | |
| ENST00000452276.6:c.766A>G | ENSP00000388671.2:p.Asn256Asp | |
| ENST00000453906.6:c.407-5579A>G | ENSP00000403035.2:n.407-5579A>G | |
| ENST00000520680.2:c.766A>G | ENSP00000428785.2:p.Asn256Asp | |
| ENST00000521065.2:c.*483A>G | ENSP00000427947.2:n.*483A>G | |
| ENST00000521517.6:c.766A>G | ENSP00000430740.2:p.Asn256Asp | |
| ENST00000681998.1:c.696A>G | ENSP00000506773.1:n.696A>G | |
| ENST00000682036.1:c.407-5579A>G | ENSP00000508390.1:n.407-5579A>G | |
| ENST00000682577.1:c.696A>G | ENSP00000506963.1:n.696A>G | |
| ENST00000682624.1:c.*340A>G | ENSP00000508343.1:n.*340A>G | |
| ENST00000682700.1:c.766A>G | ENSP00000507627.1:p.Asn256Asp | |
| ENST00000682744.1:n.304A>G | ||
| ENST00000682804.1:n.589A>G | ||
| ENST00000682837.1:c.521A>G | ENSP00000507920.1:p.Glu174Gly | |
| ENST00000682935.1:n.2326A>G | ||
| ENST00000682984.1:c.427A>G | ENSP00000507209.1:p.Asn143Asp | |
| ENST00000683078.1:c.521A>G | ENSP00000506796.1:p.Glu174Gly | |
| ENST00000683223.1:c.607A>G | ENSP00000507685.1:n.607A>G | |
| ENST00000683238.1:n.2147A>G | ||
| ENST00000683249.1:n.2347A>G | ||
| ENST00000683336.1:c.696A>G | ENSP00000507695.1:n.696A>G | |
| ENST00000683362.1:c.427A>G | ENSP00000506985.1:p.Asn143Asp | |
| ENST00000683850.1:n.689A>G | ||
| ENST00000683919.1:c.696A>G | ENSP00000507617.1:n.696A>G | |
| ENST00000683953.1:c.677A>G | ENSP00000508375.1:n.677A>G | |
| ENST00000684023.1:c.900A>G | ENSP00000507461.1:n.900A>G | |
| ENST00000684064.1:c.457A>G | ENSP00000508192.1:p.Asn153Asp | |
| ENST00000684089.1:n.2316A>G | ||
| ENST00000684149.1:c.*102A>G | ENSP00000507943.1:n.*102A>G | |
| ENST00000684416.1:n.725A>G | ||
| ENST00000684540.1:c.696A>G | ENSP00000507987.1:n.696A>G | |
| ENST00000453321.8:c.766A>G MANE Select | ENSP00000389998.3:p.Asn256Asp | |
| ENST00000323130.7:c.736A>G | ENSP00000314488.3:p.Asn246Asp | |
| ENST00000409623.7:c.523A>G | ENSP00000386966.3:p.Asn175Asp | |
| ENST00000425545.2:n.213A>G | ||
| ENST00000452276.5:c.457A>G | ENSP00000388671.1:p.Asn153Asp | |
| ENST00000453321.7:c.766A>G | ENSP00000389998.3:p.Asn256Asp | |
| ENST00000453906.5:c.407-5579A>G | ENSP00000403035.1:n.407-5579A>G | |
| ENST00000474944.5:n.427-5579A>G | ||
| ENST00000496213.5:n.231A>G | ||
| NM_001142301.1:c.523A>G , LRG_688t2:c.523A>G | NP_001135773.1:p.Asn175Asp | |
| NM_153704.5:c.766A>G , LRG_688t1:c.766A>G | NP_714915.3:p.Asn256Asp | |
| NR_024522.1:n.837A>G | ||
| XM_006716686.2:c.463A>G | XP_006716749.1:p.Asn155Asp | |
| XM_006716687.2:c.166A>G | XP_006716750.1:p.Asn56Asp | |
| XM_011517363.1:c.407-5579A>G | XP_011515665.1:n.407-5579A>G | |
| XR_428387.1:n.824A>G | ||
| XR_928360.1:n.824A>G | ||
| XR_928361.1:n.824A>G | ||
| XR_928362.1:n.824A>G | ||
| XM_006716686.4:c.463A>G | XP_006716749.1:p.Asn155Asp | |
| XM_011517363.3:c.407-5579A>G | XP_011515665.1:n.407-5579A>G | |
| XM_024447326.1:c.112A>G | XP_024303094.1:p.Asn38Asp | |
| XR_001745619.2:n.807A>G | ||
| XR_428387.2:n.807A>G | ||
| XR_928360.3:n.807A>G | ||
| XR_928362.3:n.807A>G | ||
| NM_153704.6:c.766A>G MANE Select | NP_714915.3:p.Asn256Asp | |
| NR_024522.2:n.787A>G |