Linked Data
ClinVar Variation Id:
284277
dbSNP Id:
rs375824494
gnomAD v3:
8-93758540-G-A
gnomAD v4:
8-93758540-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93758540G>A , CM000670.2:g.93758540G>A | GRCh38 |
| NC_000008.10:g.94770768G>A , CM000670.1:g.94770768G>A | GRCh37 |
| NC_000008.9:g.94839944G>A | NCBI36 |
| NG_009190.1:g.8697G>A , LRG_688:g.8697G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.370G>A | ENSP00000314488.4:p.Glu124Lys | |
| ENST00000409623.8:c.370G>A | ENSP00000386966.4:p.Glu124Lys | |
| ENST00000452276.6:c.370G>A | ENSP00000388671.2:p.Glu124Lys | |
| ENST00000453906.6:c.370G>A | ENSP00000403035.2:p.Glu124Lys | |
| ENST00000520680.2:c.370G>A | ENSP00000428785.2:p.Glu124Lys | |
| ENST00000521065.2:c.370G>A | ENSP00000427947.2:p.Glu124Lys | |
| ENST00000521517.6:c.370G>A | ENSP00000430740.2:p.Glu124Lys | |
| ENST00000681998.1:c.370G>A | ENSP00000506773.1:p.Glu124Lys | |
| ENST00000682036.1:c.370G>A | ENSP00000508390.1:p.Glu124Lys | |
| ENST00000682577.1:c.370G>A | ENSP00000506963.1:p.Glu124Lys | |
| ENST00000682624.1:c.*14G>A | ENSP00000508343.1:n.*14G>A | |
| ENST00000682700.1:c.370G>A | ENSP00000507627.1:p.Glu124Lys | |
| ENST00000682804.1:n.263G>A | ||
| ENST00000682837.1:c.370G>A | ENSP00000507920.1:p.Glu124Lys | |
| ENST00000682935.1:n.370G>A | ||
| ENST00000682984.1:c.312+2674G>A | ENSP00000507209.1:n.312+2674G>A | |
| ENST00000683078.1:c.370G>A | ENSP00000506796.1:p.Glu124Lys | |
| ENST00000683223.1:c.281G>A | ENSP00000507685.1:n.281G>A | |
| ENST00000683238.1:n.191G>A | ||
| ENST00000683249.1:n.391G>A | ||
| ENST00000683336.1:c.370G>A | ENSP00000507695.1:p.Glu124Lys | |
| ENST00000683362.1:c.312+2674G>A | ENSP00000506985.1:n.312+2674G>A | |
| ENST00000683850.1:n.293G>A | ||
| ENST00000683919.1:c.370G>A | ENSP00000507617.1:p.Glu124Lys | |
| ENST00000683953.1:c.281G>A | ENSP00000508375.1:n.281G>A | |
| ENST00000684023.1:c.370G>A | ENSP00000507461.1:p.Glu124Lys | |
| ENST00000684064.1:c.61G>A | ENSP00000508192.1:p.Glu21Lys | |
| ENST00000684089.1:n.360G>A | ||
| ENST00000684149.1:c.370G>A | ENSP00000507943.1:p.Glu124Lys | |
| ENST00000684416.1:n.195G>A | ||
| ENST00000684540.1:c.370G>A | ENSP00000507987.1:p.Glu124Lys | |
| ENST00000684733.1:n.305G>A | ||
| ENST00000453321.8:c.370G>A MANE Select | ENSP00000389998.3:p.Glu124Lys | |
| ENST00000323130.7:c.340G>A | ENSP00000314488.3:p.Glu114Lys | |
| ENST00000409623.7:c.-8G>A | ENSP00000386966.3:n.-8G>A | |
| ENST00000452276.5:c.61G>A | ENSP00000388671.1:p.Glu21Lys | |
| ENST00000453321.7:c.370G>A | ENSP00000389998.3:p.Glu124Lys | |
| ENST00000453906.5:c.370G>A | ENSP00000403035.1:p.Glu124Lys | |
| ENST00000455946.5:c.370G>A | ENSP00000416339.1:p.Glu124Lys | |
| ENST00000474944.5:n.390G>A | ||
| ENST00000475305.1:n.379G>A | ||
| ENST00000498673.5:c.-111G>A | ENSP00000430232.1:n.-111G>A | |
| ENST00000518319.5:c.-150G>A | ENSP00000430289.1:n.-150G>A | |
| ENST00000521065.1:c.276G>A | ||
| ENST00000521222.5:c.*6G>A | ENSP00000429925.1:n.*6G>A | |
| ENST00000521517.5:c.362G>A | ||
| NM_001142301.1:c.-8G>A , LRG_688t2:c.-8G>A | NP_001135773.1:n.-8G>A | |
| NM_153704.5:c.370G>A , LRG_688t1:c.370G>A | NP_714915.3:p.Glu124Lys | |
| NR_024522.1:n.441G>A | ||
| XM_006716686.2:c.67G>A | XP_006716749.1:p.Glu23Lys | |
| XM_011517363.1:c.370G>A | XP_011515665.1:p.Glu124Lys | |
| XR_428387.1:n.428G>A | ||
| XR_928360.1:n.428G>A | ||
| XR_928361.1:n.428G>A | ||
| XR_928362.1:n.428G>A | ||
| XM_006716686.4:c.67G>A | XP_006716749.1:p.Glu23Lys | |
| XM_011517363.3:c.370G>A | XP_011515665.1:p.Glu124Lys | |
| XM_024447326.1:c.-40G>A | XP_024303094.1:n.-40G>A | |
| XR_001745619.2:n.411G>A | ||
| XR_428387.2:n.411G>A | ||
| XR_928360.3:n.411G>A | ||
| XR_928362.3:n.411G>A | ||
| NM_153704.6:c.370G>A MANE Select | NP_714915.3:p.Glu124Lys | |
| NR_024522.2:n.391G>A |