Linked Data
ClinVar Variation Id:
461772
dbSNP Id:
rs770605718
ExAC:
8:94777861 G / A
gnomAD v2:
8-94777861-G-A
gnomAD v3:
8-93765633-G-A
gnomAD v4:
8-93765633-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93765633G>A , CM000670.2:g.93765633G>A | GRCh38 |
| NC_000008.10:g.94777861G>A , CM000670.1:g.94777861G>A | GRCh37 |
| NC_000008.9:g.94847037G>A | NCBI36 |
| NG_009190.1:g.15790G>A , LRG_688:g.15790G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.638G>A | ENSP00000314488.4:p.Arg213His | |
| ENST00000409623.8:c.638G>A | ENSP00000386966.4:p.Arg213His | |
| ENST00000452276.6:c.638G>A | ENSP00000388671.2:p.Arg213His | |
| ENST00000453906.6:c.406+7057G>A | ENSP00000403035.2:n.406+7057G>A | |
| ENST00000520680.2:c.638G>A | ENSP00000428785.2:p.Arg213His | |
| ENST00000521065.2:c.*355G>A | ENSP00000427947.2:n.*355G>A | |
| ENST00000521517.6:c.638G>A | ENSP00000430740.2:p.Arg213His | |
| ENST00000681998.1:c.568G>A | ENSP00000506773.1:p.Val190Ile | |
| ENST00000682036.1:c.406+7057G>A | ENSP00000508390.1:n.406+7057G>A | |
| ENST00000682577.1:c.568G>A | ENSP00000506963.1:p.Val190Ile | |
| ENST00000682624.1:c.*212G>A | ENSP00000508343.1:n.*212G>A | |
| ENST00000682700.1:c.638G>A | ENSP00000507627.1:p.Arg213His | |
| ENST00000682804.1:n.461G>A | ||
| ENST00000682837.1:c.407-6956G>A | ENSP00000507920.1:n.407-6956G>A | |
| ENST00000682935.1:n.2198G>A | ||
| ENST00000682984.1:c.313-6956G>A | ENSP00000507209.1:n.313-6956G>A | |
| ENST00000683078.1:c.407-6956G>A | ENSP00000506796.1:n.407-6956G>A | |
| ENST00000683223.1:c.479G>A | ENSP00000507685.1:n.479G>A | |
| ENST00000683238.1:n.2019G>A | ||
| ENST00000683249.1:n.2219G>A | ||
| ENST00000683336.1:c.568G>A | ENSP00000507695.1:p.Val190Ile | |
| ENST00000683362.1:c.313-6956G>A | ENSP00000506985.1:n.313-6956G>A | |
| ENST00000683850.1:n.561G>A | ||
| ENST00000683919.1:c.568G>A | ENSP00000507617.1:p.Val190Ile | |
| ENST00000683953.1:c.549G>A | ENSP00000508375.1:n.549G>A | |
| ENST00000684023.1:c.772G>A | ENSP00000507461.1:n.772G>A | |
| ENST00000684064.1:c.329G>A | ENSP00000508192.1:p.Arg110His | |
| ENST00000684089.1:n.2188G>A | ||
| ENST00000684149.1:c.568G>A | ENSP00000507943.1:p.Val190Ile | |
| ENST00000684416.1:n.597G>A | ||
| ENST00000684540.1:c.568G>A | ENSP00000507987.1:p.Val190Ile | |
| ENST00000453321.8:c.638G>A MANE Select | ENSP00000389998.3:p.Arg213His | |
| ENST00000323130.7:c.608G>A | ENSP00000314488.3:p.Arg203His | |
| ENST00000409623.7:c.395G>A | ENSP00000386966.3:p.Arg132His | |
| ENST00000452276.5:c.329G>A | ENSP00000388671.1:p.Arg110His | |
| ENST00000453321.7:c.638G>A | ENSP00000389998.3:p.Arg213His | |
| ENST00000453906.5:c.406+7057G>A | ENSP00000403035.1:n.406+7057G>A | |
| ENST00000474944.5:n.426+7057G>A | ||
| ENST00000496213.5:n.103G>A | ||
| NM_001142301.1:c.395G>A , LRG_688t2:c.395G>A | NP_001135773.1:p.Arg132His | |
| NM_153704.5:c.638G>A , LRG_688t1:c.638G>A | NP_714915.3:p.Arg213His | |
| NR_024522.1:n.709G>A | ||
| XM_006716686.2:c.335G>A | XP_006716749.1:p.Arg112His | |
| XM_011517363.1:c.406+7057G>A | XP_011515665.1:n.406+7057G>A | |
| XR_428387.1:n.696G>A | ||
| XR_928360.1:n.696G>A | ||
| XR_928361.1:n.696G>A | ||
| XR_928362.1:n.696G>A | ||
| XM_006716686.4:c.335G>A | XP_006716749.1:p.Arg112His | |
| XM_011517363.3:c.406+7057G>A | XP_011515665.1:n.406+7057G>A | |
| XM_024447326.1:c.-3-6956G>A | XP_024303094.1:n.-3-6956G>A | |
| XR_001745619.2:n.679G>A | ||
| XR_428387.2:n.679G>A | ||
| XR_928360.3:n.679G>A | ||
| XR_928362.3:n.679G>A | ||
| NM_153704.6:c.638G>A MANE Select | NP_714915.3:p.Arg213His | |
| NR_024522.2:n.659G>A |