Linked Data
ClinVar Variation Id:
242363
ClinVar RCV Id:
RCV000234818
RCV000251115
RCV000723708
RCV001087450
RCV001163249
RCV001163248
RCV001163250
RCV002294093
dbSNP Id:
rs115563233
ExAC:
8:94811986 G / A
gnomAD v2:
8-94811986-G-A
gnomAD v3:
8-93799758-G-A
gnomAD v4:
8-93799758-G-A
PubMed:
PMID:27336129
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93799758G>A , CM000670.2:g.93799758G>A | GRCh38 |
| NC_000008.10:g.94811986G>A , CM000670.1:g.94811986G>A | GRCh37 |
| NC_000008.9:g.94881162G>A | NCBI36 |
| NG_009190.1:g.49915G>A , LRG_688:g.49915G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.2241G>A | ENSP00000314488.4:p.Gln747= | |
| ENST00000409623.8:c.2196G>A | ENSP00000386966.4:p.Gln732= | |
| ENST00000452276.6:c.2241G>A | ENSP00000388671.2:p.Gln747= | |
| ENST00000453906.6:c.1359G>A | ENSP00000403035.2:p.Gln453= | |
| ENST00000518896.2:c.532G>A | ENSP00000507992.1:n.532G>A | |
| ENST00000520680.2:c.2364G>A | ENSP00000428785.2:p.Gln788= | |
| ENST00000521517.6:c.2142G>A | ENSP00000430740.2:p.Gln714= | |
| ENST00000681998.1:c.2062G>A | ENSP00000506773.1:n.2062G>A | |
| ENST00000682036.1:c.1482G>A | ENSP00000508390.1:p.Gln494= | |
| ENST00000682577.1:c.2014G>A | ENSP00000506963.1:n.2014G>A | |
| ENST00000682624.1:c.*1815G>A | ENSP00000508343.1:n.*1815G>A | |
| ENST00000682700.1:c.2241G>A | ENSP00000507627.1:p.Gln747= | |
| ENST00000682744.1:n.1779G>A | ||
| ENST00000682804.1:n.2064G>A | ||
| ENST00000682837.1:c.1730G>A | ENSP00000507920.1:n.1730G>A | |
| ENST00000682935.1:n.4291G>A | ||
| ENST00000682984.1:c.1902G>A | ENSP00000507209.1:p.Gln634= | |
| ENST00000683078.1:c.1996G>A | ENSP00000506796.1:n.1996G>A | |
| ENST00000683223.1:c.1973G>A | ENSP00000507685.1:n.1973G>A | |
| ENST00000683238.1:n.3465G>A | ||
| ENST00000683249.1:n.3838G>A | ||
| ENST00000683336.1:c.2062G>A | ENSP00000507695.1:n.2062G>A | |
| ENST00000683362.1:c.1902G>A | ENSP00000506985.1:p.Gln634= | |
| ENST00000683850.1:n.2164G>A | ||
| ENST00000683919.1:c.2171G>A | ENSP00000507617.1:n.2171G>A | |
| ENST00000683953.1:c.2152G>A | ENSP00000508375.1:n.2152G>A | |
| ENST00000684023.1:c.2218G>A | ENSP00000507461.1:n.2218G>A | |
| ENST00000684064.1:c.1932G>A | ENSP00000508192.1:p.Gln644= | |
| ENST00000684089.1:n.3791G>A | ||
| ENST00000684149.1:c.*1420G>A | ENSP00000507943.1:n.*1420G>A | |
| ENST00000684343.1:c.438G>A | ENSP00000507591.1:p.Gln146= | |
| ENST00000684416.1:n.2200G>A | ||
| ENST00000684540.1:c.2171G>A | ENSP00000507987.1:n.2171G>A | |
| ENST00000453321.8:c.2241G>A MANE Select | ENSP00000389998.3:p.Gln747= | |
| ENST00000323130.7:c.2211G>A | ENSP00000314488.3:p.Gln737= | |
| ENST00000409623.7:c.1998G>A | ENSP00000386966.3:p.Gln666= | |
| ENST00000453321.7:c.2241G>A | ENSP00000389998.3:p.Gln747= | |
| ENST00000474944.5:n.1379G>A | ||
| ENST00000519845.5:n.973G>A | ||
| NM_001142301.1:c.1998G>A , LRG_688t2:c.1998G>A | NP_001135773.1:p.Gln666= | |
| NM_153704.5:c.2241G>A , LRG_688t1:c.2241G>A | NP_714915.3:p.Gln747= | |
| NR_024522.1:n.2312G>A | ||
| XM_006716686.2:c.1938G>A | XP_006716749.1:p.Gln646= | |
| XM_006716687.2:c.1641G>A | XP_006716750.1:p.Gln547= | |
| XM_011517363.1:c.1359G>A | XP_011515665.1:p.Gln453= | |
| XR_428387.1:n.2299G>A | ||
| XR_928360.1:n.2299G>A | ||
| XR_928361.1:n.2299G>A | ||
| XR_928362.1:n.2299G>A | ||
| XM_006716686.4:c.1938G>A | XP_006716749.1:p.Gln646= | |
| XM_011517363.3:c.1359G>A | XP_011515665.1:p.Gln453= | |
| XM_024447326.1:c.1587G>A | XP_024303094.1:p.Gln529= | |
| XR_001745619.2:n.2282G>A | ||
| XR_428387.2:n.2282G>A | ||
| XR_928360.3:n.2282G>A | ||
| XR_928362.3:n.2282G>A | ||
| NM_153704.6:c.2241G>A MANE Select | NP_714915.3:p.Gln747= | |
| NR_024522.2:n.2262G>A |