Linked Data
ClinVar Variation Id:
217721
dbSNP Id:
rs750950408
ExAC:
8:94777642 G / A
gnomAD v2:
8-94777642-G-A
gnomAD v3:
8-93765414-G-A
gnomAD v4:
8-93765414-G-A
PubMed:
PMID:26092869
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93765414G>A , CM000670.2:g.93765414G>A | GRCh38 |
| NC_000008.10:g.94777642G>A , CM000670.1:g.94777642G>A | GRCh37 |
| NC_000008.9:g.94846818G>A | NCBI36 |
| NG_009190.1:g.15571G>A , LRG_688:g.15571G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.515G>A | ENSP00000314488.4:p.Arg172Gln | |
| ENST00000409623.8:c.515G>A | ENSP00000386966.4:p.Arg172Gln | |
| ENST00000452276.6:c.515G>A | ENSP00000388671.2:p.Arg172Gln | |
| ENST00000453906.6:c.406+6838G>A | ENSP00000403035.2:n.406+6838G>A | |
| ENST00000520680.2:c.515G>A | ENSP00000428785.2:p.Arg172Gln | |
| ENST00000521065.2:c.*232G>A | ENSP00000427947.2:n.*232G>A | |
| ENST00000521517.6:c.515G>A | ENSP00000430740.2:p.Arg172Gln | |
| ENST00000681998.1:c.507-158G>A | ENSP00000506773.1:n.507-158G>A | |
| ENST00000682036.1:c.406+6838G>A | ENSP00000508390.1:n.406+6838G>A | |
| ENST00000682577.1:c.507-158G>A | ENSP00000506963.1:n.507-158G>A | |
| ENST00000682624.1:c.*151-158G>A | ENSP00000508343.1:n.*151-158G>A | |
| ENST00000682700.1:c.515G>A | ENSP00000507627.1:p.Arg172Gln | |
| ENST00000682804.1:n.400-158G>A | ||
| ENST00000682837.1:c.406+6838G>A | ENSP00000507920.1:n.406+6838G>A | |
| ENST00000682935.1:n.1979G>A | ||
| ENST00000682984.1:c.313-7175G>A | ENSP00000507209.1:n.313-7175G>A | |
| ENST00000683078.1:c.406+6838G>A | ENSP00000506796.1:n.406+6838G>A | |
| ENST00000683223.1:c.418-158G>A | ENSP00000507685.1:n.418-158G>A | |
| ENST00000683238.1:n.1800G>A | ||
| ENST00000683249.1:n.2000G>A | ||
| ENST00000683336.1:c.507-158G>A | ENSP00000507695.1:n.507-158G>A | |
| ENST00000683362.1:c.313-7175G>A | ENSP00000506985.1:n.313-7175G>A | |
| ENST00000683850.1:n.438G>A | ||
| ENST00000683919.1:c.507-158G>A | ENSP00000507617.1:n.507-158G>A | |
| ENST00000683953.1:c.426G>A | ENSP00000508375.1:n.426G>A | |
| ENST00000684023.1:c.649G>A | ENSP00000507461.1:n.649G>A | |
| ENST00000684064.1:c.206G>A | ENSP00000508192.1:p.Arg69Gln | |
| ENST00000684089.1:n.1969G>A | ||
| ENST00000684149.1:c.507-158G>A | ENSP00000507943.1:n.507-158G>A | |
| ENST00000684416.1:n.474G>A | ||
| ENST00000684540.1:c.507-158G>A | ENSP00000507987.1:n.507-158G>A | |
| ENST00000453321.8:c.515G>A MANE Select | ENSP00000389998.3:p.Arg172Gln | |
| ENST00000323130.7:c.485G>A | ENSP00000314488.3:p.Arg162Gln | |
| ENST00000409623.7:c.272G>A | ENSP00000386966.3:p.Arg91Gln | |
| ENST00000452276.5:c.206G>A | ENSP00000388671.1:p.Arg69Gln | |
| ENST00000453321.7:c.515G>A | ENSP00000389998.3:p.Arg172Gln | |
| ENST00000453906.5:c.406+6838G>A | ENSP00000403035.1:n.406+6838G>A | |
| ENST00000455946.5:c.*187G>A | ENSP00000416339.1:n.*187G>A | |
| ENST00000474944.5:n.426+6838G>A | ||
| ENST00000518319.5:c.35G>A | ENSP00000430289.1:p.Arg12Gln | |
| ENST00000521065.1:c.421G>A | ||
| ENST00000521222.5:c.*151G>A | ENSP00000429925.1:n.*151G>A | |
| ENST00000521517.5:c.499-158G>A | ||
| NM_001142301.1:c.272G>A , LRG_688t2:c.272G>A | NP_001135773.1:p.Arg91Gln | |
| NM_153704.5:c.515G>A , LRG_688t1:c.515G>A | NP_714915.3:p.Arg172Gln | |
| NR_024522.1:n.586G>A | ||
| XM_006716686.2:c.212G>A | XP_006716749.1:p.Arg71Gln | |
| XM_011517363.1:c.406+6838G>A | XP_011515665.1:n.406+6838G>A | |
| XR_428387.1:n.573G>A | ||
| XR_928360.1:n.573G>A | ||
| XR_928361.1:n.573G>A | ||
| XR_928362.1:n.573G>A | ||
| XM_006716686.4:c.212G>A | XP_006716749.1:p.Arg71Gln | |
| XM_011517363.3:c.406+6838G>A | XP_011515665.1:n.406+6838G>A | |
| XM_024447326.1:c.-4+6838G>A | XP_024303094.1:n.-4+6838G>A | |
| XR_001745619.2:n.556G>A | ||
| XR_428387.2:n.556G>A | ||
| XR_928360.3:n.556G>A | ||
| XR_928362.3:n.556G>A | ||
| NM_153704.6:c.515G>A MANE Select | NP_714915.3:p.Arg172Gln | |
| NR_024522.2:n.536G>A |