Linked Data
ClinVar Variation Id:
449519
ClinVar RCV Id:
RCV000519954
RCV001165120
RCV001165118
RCV001165119
RCV001333011
RCV001198569
RCV001797744
RCV002476053
RCV001857955
dbSNP Id:
rs202036490
ExAC:
8:94784818 G / C
gnomAD v2:
8-94784818-G-C
gnomAD v3:
8-93772590-G-C
gnomAD v4:
8-93772590-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93772590G>C , CM000670.2:g.93772590G>C | GRCh38 |
| NC_000008.10:g.94784818G>C , CM000670.1:g.94784818G>C | GRCh37 |
| NC_000008.9:g.94853994G>C | NCBI36 |
| NG_009190.1:g.22747G>C , LRG_688:g.22747G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.653G>C | ENSP00000314488.4:p.Gly218Ala | |
| ENST00000409623.8:c.653G>C | ENSP00000386966.4:p.Gly218Ala | |
| ENST00000452276.6:c.653G>C | ENSP00000388671.2:p.Gly218Ala | |
| ENST00000453906.6:c.407-13633G>C | ENSP00000403035.2:n.407-13633G>C | |
| ENST00000520680.2:c.653G>C | ENSP00000428785.2:p.Gly218Ala | |
| ENST00000521065.2:c.*370G>C | ENSP00000427947.2:n.*370G>C | |
| ENST00000521517.6:c.653G>C | ENSP00000430740.2:p.Gly218Ala | |
| ENST00000681998.1:c.583G>C | ENSP00000506773.1:p.Ala195Pro | |
| ENST00000682036.1:c.407-13633G>C | ENSP00000508390.1:n.407-13633G>C | |
| ENST00000682577.1:c.583G>C | ENSP00000506963.1:p.Ala195Pro | |
| ENST00000682624.1:c.*227G>C | ENSP00000508343.1:n.*227G>C | |
| ENST00000682700.1:c.653G>C | ENSP00000507627.1:p.Gly218Ala | |
| ENST00000682804.1:n.476G>C | ||
| ENST00000682837.1:c.408G>C | ENSP00000507920.1:p.Gly136= | |
| ENST00000682935.1:n.2213G>C | ||
| ENST00000682984.1:c.314G>C | ENSP00000507209.1:p.Gly105Ala | |
| ENST00000683078.1:c.408G>C | ENSP00000506796.1:p.Gly136= | |
| ENST00000683223.1:c.494G>C | ENSP00000507685.1:n.494G>C | |
| ENST00000683238.1:n.2034G>C | ||
| ENST00000683249.1:n.2234G>C | ||
| ENST00000683336.1:c.583G>C | ENSP00000507695.1:p.Ala195Pro | |
| ENST00000683362.1:c.314G>C | ENSP00000506985.1:p.Gly105Ala | |
| ENST00000683850.1:n.576G>C | ||
| ENST00000683919.1:c.583G>C | ENSP00000507617.1:p.Ala195Pro | |
| ENST00000683953.1:c.564G>C | ENSP00000508375.1:n.564G>C | |
| ENST00000684023.1:c.787G>C | ENSP00000507461.1:n.787G>C | |
| ENST00000684064.1:c.344G>C | ENSP00000508192.1:p.Gly115Ala | |
| ENST00000684089.1:n.2203G>C | ||
| ENST00000684149.1:c.583G>C | ENSP00000507943.1:p.Ala195Pro | |
| ENST00000684416.1:n.612G>C | ||
| ENST00000684540.1:c.583G>C | ENSP00000507987.1:p.Ala195Pro | |
| ENST00000453321.8:c.653G>C MANE Select | ENSP00000389998.3:p.Gly218Ala | |
| ENST00000323130.7:c.623G>C | ENSP00000314488.3:p.Gly208Ala | |
| ENST00000409623.7:c.410G>C | ENSP00000386966.3:p.Gly137Ala | |
| ENST00000425545.2:n.100G>C | ||
| ENST00000452276.5:c.344G>C | ENSP00000388671.1:p.Gly115Ala | |
| ENST00000453321.7:c.653G>C | ENSP00000389998.3:p.Gly218Ala | |
| ENST00000453906.5:c.407-13633G>C | ENSP00000403035.1:n.407-13633G>C | |
| ENST00000474944.5:n.427-13633G>C | ||
| ENST00000496213.5:n.118G>C | ||
| NM_001142301.1:c.410G>C , LRG_688t2:c.410G>C | NP_001135773.1:p.Gly137Ala | |
| NM_153704.5:c.653G>C , LRG_688t1:c.653G>C | NP_714915.3:p.Gly218Ala | |
| NR_024522.1:n.724G>C | ||
| XM_006716686.2:c.350G>C | XP_006716749.1:p.Gly117Ala | |
| XM_006716687.2:c.53G>C | XP_006716750.1:p.Gly18Ala | |
| XM_011517363.1:c.407-13633G>C | XP_011515665.1:n.407-13633G>C | |
| XR_428387.1:n.711G>C | ||
| XR_928360.1:n.711G>C | ||
| XR_928361.1:n.711G>C | ||
| XR_928362.1:n.711G>C | ||
| XM_006716686.4:c.350G>C | XP_006716749.1:p.Gly117Ala | |
| XM_011517363.3:c.407-13633G>C | XP_011515665.1:n.407-13633G>C | |
| XM_024447326.1:c.-2G>C | XP_024303094.1:n.-2G>C | |
| XR_001745619.2:n.694G>C | ||
| XR_428387.2:n.694G>C | ||
| XR_928360.3:n.694G>C | ||
| XR_928362.3:n.694G>C | ||
| NM_153704.6:c.653G>C MANE Select | NP_714915.3:p.Gly218Ala | |
| NR_024522.2:n.674G>C |