Linked Data
ClinVar Variation Id:
2950280
ClinVar RCV Id:
RCV003807638
dbSNP Id:
rs764081163
ExAC:
8:94792847 A / G
gnomAD v2:
8-94792847-A-G
gnomAD v4:
8-93780619-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93780619A>G , CM000670.2:g.93780619A>G | GRCh38 |
| NC_000008.10:g.94792847A>G , CM000670.1:g.94792847A>G | GRCh37 |
| NC_000008.9:g.94862023A>G | NCBI36 |
| NG_009190.1:g.30776A>G , LRG_688:g.30776A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.741A>G | ENSP00000314488.4:p.Gln247= | |
| ENST00000409623.8:c.741A>G | ENSP00000386966.4:p.Gln247= | |
| ENST00000452276.6:c.741A>G | ENSP00000388671.2:p.Gln247= | |
| ENST00000453906.6:c.407-5604A>G | ENSP00000403035.2:n.407-5604A>G | |
| ENST00000520680.2:c.741A>G | ENSP00000428785.2:p.Gln247= | |
| ENST00000521065.2:c.*458A>G | ENSP00000427947.2:n.*458A>G | |
| ENST00000521517.6:c.741A>G | ENSP00000430740.2:p.Gln247= | |
| ENST00000681998.1:c.671A>G | ENSP00000506773.1:n.671A>G | |
| ENST00000682036.1:c.407-5604A>G | ENSP00000508390.1:n.407-5604A>G | |
| ENST00000682577.1:c.671A>G | ENSP00000506963.1:n.671A>G | |
| ENST00000682624.1:c.*315A>G | ENSP00000508343.1:n.*315A>G | |
| ENST00000682700.1:c.741A>G | ENSP00000507627.1:p.Gln247= | |
| ENST00000682744.1:n.279A>G | ||
| ENST00000682804.1:n.564A>G | ||
| ENST00000682837.1:c.496A>G | ENSP00000507920.1:p.Ser166Gly | |
| ENST00000682935.1:n.2301A>G | ||
| ENST00000682984.1:c.402A>G | ENSP00000507209.1:p.Gln134= | |
| ENST00000683078.1:c.496A>G | ENSP00000506796.1:p.Ser166Gly | |
| ENST00000683223.1:c.582A>G | ENSP00000507685.1:n.582A>G | |
| ENST00000683238.1:n.2122A>G | ||
| ENST00000683249.1:n.2322A>G | ||
| ENST00000683336.1:c.671A>G | ENSP00000507695.1:n.671A>G | |
| ENST00000683362.1:c.402A>G | ENSP00000506985.1:p.Gln134= | |
| ENST00000683850.1:n.664A>G | ||
| ENST00000683919.1:c.671A>G | ENSP00000507617.1:n.671A>G | |
| ENST00000683953.1:c.652A>G | ENSP00000508375.1:n.652A>G | |
| ENST00000684023.1:c.875A>G | ENSP00000507461.1:n.875A>G | |
| ENST00000684064.1:c.432A>G | ENSP00000508192.1:p.Gln144= | |
| ENST00000684089.1:n.2291A>G | ||
| ENST00000684149.1:c.*77A>G | ENSP00000507943.1:n.*77A>G | |
| ENST00000684416.1:n.700A>G | ||
| ENST00000684540.1:c.671A>G | ENSP00000507987.1:n.671A>G | |
| ENST00000453321.8:c.741A>G MANE Select | ENSP00000389998.3:p.Gln247= | |
| ENST00000323130.7:c.711A>G | ENSP00000314488.3:p.Gln237= | |
| ENST00000409623.7:c.498A>G | ENSP00000386966.3:p.Gln166= | |
| ENST00000425545.2:n.188A>G | ||
| ENST00000452276.5:c.432A>G | ENSP00000388671.1:p.Gln144= | |
| ENST00000453321.7:c.741A>G | ENSP00000389998.3:p.Gln247= | |
| ENST00000453906.5:c.407-5604A>G | ENSP00000403035.1:n.407-5604A>G | |
| ENST00000474944.5:n.427-5604A>G | ||
| ENST00000496213.5:n.206A>G | ||
| NM_001142301.1:c.498A>G , LRG_688t2:c.498A>G | NP_001135773.1:p.Gln166= | |
| NM_153704.5:c.741A>G , LRG_688t1:c.741A>G | NP_714915.3:p.Gln247= | |
| NR_024522.1:n.812A>G | ||
| XM_006716686.2:c.438A>G | XP_006716749.1:p.Gln146= | |
| XM_006716687.2:c.141A>G | XP_006716750.1:p.Gln47= | |
| XM_011517363.1:c.407-5604A>G | XP_011515665.1:n.407-5604A>G | |
| XR_428387.1:n.799A>G | ||
| XR_928360.1:n.799A>G | ||
| XR_928361.1:n.799A>G | ||
| XR_928362.1:n.799A>G | ||
| XM_006716686.4:c.438A>G | XP_006716749.1:p.Gln146= | |
| XM_011517363.3:c.407-5604A>G | XP_011515665.1:n.407-5604A>G | |
| XM_024447326.1:c.87A>G | XP_024303094.1:p.Gln29= | |
| XR_001745619.2:n.782A>G | ||
| XR_428387.2:n.782A>G | ||
| XR_928360.3:n.782A>G | ||
| XR_928362.3:n.782A>G | ||
| NM_153704.6:c.741A>G MANE Select | NP_714915.3:p.Gln247= | |
| NR_024522.2:n.762A>G |