Linked Data
ClinVar Variation Id:
40050
dbSNP Id:
rs398123011
ExAC:
7:26404195 G / A
gnomAD v2:
7-26404195-G-A
gnomAD v3:
7-26364575-G-A
gnomAD v4:
7-26364575-G-A
PubMed:
PMID:22499339
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.26364575G>A , CM000669.2:g.26364575G>A | GRCh38 |
| NC_000007.13:g.26404195G>A , CM000669.1:g.26404195G>A | GRCh37 |
| NC_000007.12:g.26370720G>A | NCBI36 |
| NG_033902.1:g.77681G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409367.6:c.32G>A | ENSP00000387274.1:p.Arg11Gln | |
| ENST00000416246.6:c.32G>A | ENSP00000408164.2:p.Arg11Gln | |
| ENST00000698074.1:c.32G>A | ENSP00000513546.1:p.Arg11Gln | |
| ENST00000698075.1:c.32G>A | ENSP00000513547.1:p.Arg11Gln | |
| ENST00000698076.1:c.32G>A | ENSP00000513548.1:p.Arg11Gln | |
| ENST00000698077.1:c.152G>A | ENSP00000513549.1:p.Arg51Gln | |
| ENST00000698078.1:c.152G>A | ENSP00000513550.1:p.Arg51Gln | |
| ENST00000698079.1:c.152G>A | ENSP00000513551.1:p.Arg51Gln | |
| ENST00000698080.1:c.152G>A | ENSP00000513552.1:p.Arg51Gln | |
| ENST00000698081.1:c.152G>A | ENSP00000513553.1:p.Arg51Gln | |
| ENST00000698082.1:n.261G>A | ||
| ENST00000698083.1:c.152G>A | ENSP00000513554.1:p.Arg51Gln | |
| ENST00000698084.1:c.32G>A | ENSP00000513555.1:p.Arg11Gln | |
| ENST00000698085.1:n.248G>A | ||
| ENST00000698086.1:c.152G>A | ENSP00000513556.1:p.Arg51Gln | |
| ENST00000698087.1:c.152G>A | ENSP00000513557.1:p.Arg51Gln | |
| ENST00000698088.1:c.152G>A | ENSP00000513558.1:p.Arg51Gln | |
| ENST00000698089.1:c.32G>A | ENSP00000513559.1:p.Arg11Gln | |
| ENST00000698090.1:c.152G>A | ENSP00000513560.1:p.Arg51Gln | |
| ENST00000698091.1:n.2012G>A | ||
| ENST00000698092.1:n.8G>A | ||
| ENST00000338523.9:c.152G>A MANE Select | ENSP00000343709.5:p.Arg51Gln | |
| ENST00000338523.8:c.152G>A | ENSP00000343709.4:p.Arg51Gln | |
| ENST00000396376.5:c.152G>A | ENSP00000379661.1:p.Arg51Gln | |
| ENST00000409367.5:c.32G>A | ENSP00000387274.1:p.Arg11Gln | |
| ENST00000409838.1:c.-41+73G>A | ENSP00000386540.1:n.-41+73G>A | |
| ENST00000416246.5:c.230G>A | ENSP00000408164.1:p.Arg77Gln | |
| ENST00000446848.6:c.152G>A | ENSP00000395474.3:p.Arg51Gln | |
| ENST00000619420.4:c.152G>A | ENSP00000478710.1:p.Arg51Gln | |
| NM_001199835.1:c.152G>A | NP_001186764.1:p.Arg51Gln | |
| NM_001199837.1:c.143G>A | NP_001186766.1:p.Arg48Gln | |
| NM_001199838.1:c.-41+73G>A | NP_001186767.1:n.-41+73G>A | |
| NM_013322.2:c.152G>A | NP_037454.2:p.Arg51Gln | |
| NR_037670.1:n.488G>A | ||
| XM_006715710.1:c.152G>A | XP_006715773.1:p.Arg51Gln | |
| XM_006715711.1:c.152G>A | XP_006715774.1:p.Arg51Gln | |
| XM_006715712.1:c.152G>A | XP_006715775.1:p.Arg51Gln | |
| NM_001318198.1:c.230G>A | NP_001305127.1:p.Arg77Gln | |
| NM_001318199.1:c.152G>A | NP_001305128.1:p.Arg51Gln | |
| NM_001362753.1:c.230G>A | NP_001349682.1:p.Arg77Gln | |
| NM_001362754.1:c.230G>A | NP_001349683.1:p.Arg77Gln | |
| XM_006715712.2:c.152G>A | XP_006715775.1:p.Arg51Gln | |
| XM_017012086.1:c.230G>A | XP_016867575.1:p.Arg77Gln | |
| NM_001199837.2:c.143G>A | NP_001186766.1:p.Arg48Gln | |
| NM_001318199.2:c.152G>A | NP_001305128.1:p.Arg51Gln | |
| NM_013322.3:c.152G>A MANE Select | NP_037454.2:p.Arg51Gln | |
| NM_001199837.3:c.143G>A | NP_001186766.1:p.Arg48Gln | |
| NM_001199838.2:c.-41+73G>A | NP_001186767.1:n.-41+73G>A | |
| NM_001318199.3:c.152G>A | NP_001305128.1:p.Arg51Gln |