Linked Data
ClinVar Variation Id:
56764
dbSNP Id:
rs386834182
ExAC:
8:94798481 G / A
gnomAD v2:
8-94798481-G-A
gnomAD v3:
8-93786253-G-A
gnomAD v4:
8-93786253-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93786253G>A , CM000670.2:g.93786253G>A | GRCh38 |
| NC_000008.10:g.94798481G>A , CM000670.1:g.94798481G>A | GRCh37 |
| NC_000008.9:g.94867657G>A | NCBI36 |
| NG_009190.1:g.36410G>A , LRG_688:g.36410G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.1319G>A | ENSP00000314488.4:p.Arg440Gln | |
| ENST00000409623.8:c.1289-15G>A | ENSP00000386966.4:n.1289-15G>A | |
| ENST00000452276.6:c.1319G>A | ENSP00000388671.2:p.Arg440Gln | |
| ENST00000453906.6:c.437G>A | ENSP00000403035.2:p.Arg146Gln | |
| ENST00000520680.2:c.1319G>A | ENSP00000428785.2:p.Arg440Gln | |
| ENST00000521517.6:c.1319G>A | ENSP00000430740.2:p.Arg440Gln | |
| ENST00000681998.1:c.1140G>A | ENSP00000506773.1:n.1140G>A | |
| ENST00000682036.1:c.437G>A | ENSP00000508390.1:p.Arg146Gln | |
| ENST00000682577.1:c.1092G>A | ENSP00000506963.1:n.1092G>A | |
| ENST00000682624.1:c.*893G>A | ENSP00000508343.1:n.*893G>A | |
| ENST00000682700.1:c.1319G>A | ENSP00000507627.1:p.Arg440Gln | |
| ENST00000682744.1:n.857G>A | ||
| ENST00000682804.1:n.1142G>A | ||
| ENST00000682837.1:c.808G>A | ENSP00000507920.1:n.808G>A | |
| ENST00000682935.1:n.3369G>A | ||
| ENST00000682984.1:c.980G>A | ENSP00000507209.1:p.Arg327Gln | |
| ENST00000683078.1:c.1074G>A | ENSP00000506796.1:n.1074G>A | |
| ENST00000683223.1:c.1051G>A | ENSP00000507685.1:n.1051G>A | |
| ENST00000683238.1:n.2543G>A | ||
| ENST00000683249.1:n.2916G>A | ||
| ENST00000683336.1:c.1140G>A | ENSP00000507695.1:n.1140G>A | |
| ENST00000683362.1:c.980G>A | ENSP00000506985.1:p.Arg327Gln | |
| ENST00000683850.1:n.1242G>A | ||
| ENST00000683919.1:c.1249G>A | ENSP00000507617.1:n.1249G>A | |
| ENST00000683953.1:c.1230G>A | ENSP00000508375.1:n.1230G>A | |
| ENST00000684023.1:c.1296G>A | ENSP00000507461.1:n.1296G>A | |
| ENST00000684064.1:c.1010G>A | ENSP00000508192.1:p.Arg337Gln | |
| ENST00000684089.1:n.2869G>A | ||
| ENST00000684149.1:c.*498G>A | ENSP00000507943.1:n.*498G>A | |
| ENST00000684416.1:n.1278G>A | ||
| ENST00000684540.1:c.1249G>A | ENSP00000507987.1:n.1249G>A | |
| ENST00000453321.8:c.1319G>A MANE Select | ENSP00000389998.3:p.Arg440Gln | |
| ENST00000323130.7:c.1289G>A | ENSP00000314488.3:p.Arg430Gln | |
| ENST00000409623.7:c.1076G>A | ENSP00000386966.3:p.Arg359Gln | |
| ENST00000452276.5:c.1010G>A | ENSP00000388671.1:p.Arg337Gln | |
| ENST00000453321.7:c.1319G>A | ENSP00000389998.3:p.Arg440Gln | |
| ENST00000453906.5:c.437G>A | ENSP00000403035.1:p.Arg146Gln | |
| ENST00000474944.5:n.457G>A | ||
| ENST00000520680.1:c.141G>A | ||
| NM_001142301.1:c.1076G>A , LRG_688t2:c.1076G>A | NP_001135773.1:p.Arg359Gln | |
| NM_153704.5:c.1319G>A , LRG_688t1:c.1319G>A | NP_714915.3:p.Arg440Gln | |
| NR_024522.1:n.1390G>A | ||
| XM_006716686.2:c.1016G>A | XP_006716749.1:p.Arg339Gln | |
| XM_006716687.2:c.719G>A | XP_006716750.1:p.Arg240Gln | |
| XM_011517363.1:c.437G>A | XP_011515665.1:p.Arg146Gln | |
| XR_428387.1:n.1377G>A | ||
| XR_928360.1:n.1377G>A | ||
| XR_928361.1:n.1377G>A | ||
| XR_928362.1:n.1377G>A | ||
| XM_006716686.4:c.1016G>A | XP_006716749.1:p.Arg339Gln | |
| XM_011517363.3:c.437G>A | XP_011515665.1:p.Arg146Gln | |
| XM_024447326.1:c.665G>A | XP_024303094.1:p.Arg222Gln | |
| XR_001745619.2:n.1360G>A | ||
| XR_428387.2:n.1360G>A | ||
| XR_928360.3:n.1360G>A | ||
| XR_928362.3:n.1360G>A | ||
| NM_153704.6:c.1319G>A MANE Select | NP_714915.3:p.Arg440Gln | |
| NR_024522.2:n.1340G>A |