Linked Data
ClinVar Variation Id:
55907
ClinVar RCV Id:
RCV000049321
dbSNP Id:
rs782269909
ExAC:
1:150053448 G / A
gnomAD v2:
1-150053448-G-A
gnomAD v3:
1-150081366-G-A
gnomAD v4:
1-150081366-G-A
PubMed:
PMID:23738510
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150081366G>A , CM000663.2:g.150081366G>A | GRCh38 |
| NC_000001.10:g.150053448G>A , CM000663.1:g.150053448G>A | GRCh37 |
| NC_000001.9:g.148320072G>A | NCBI36 |
| NG_033910.1:g.19074G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000419023.4:c.640G>A | ENSP00000400143.3:p.Glu214Lys | |
| ENST00000460366.6:n.844G>A | ||
| ENST00000477558.3:n.1217G>A | ||
| ENST00000497638.3:n.1495G>A | ||
| ENST00000642919.2:c.*609G>A | ENSP00000494763.1:n.*609G>A | |
| ENST00000643970.2:c.604G>A | ENSP00000495148.1:p.Glu202Lys | |
| ENST00000644526.2:c.712G>A | ENSP00000494363.1:p.Glu238Lys | |
| ENST00000644704.2:c.712G>A | ENSP00000495981.2:p.Glu238Lys | |
| ENST00000698523.1:c.604G>A | ENSP00000513772.1:p.Glu202Lys | |
| ENST00000698527.1:c.712G>A | ENSP00000513776.1:p.Glu238Lys | |
| ENST00000698528.1:c.712G>A | ENSP00000513777.1:p.Glu238Lys | |
| ENST00000698529.1:n.834G>A | ||
| ENST00000698530.1:n.834G>A | ||
| ENST00000698531.1:n.834G>A | ||
| ENST00000698532.1:c.643G>A | ENSP00000513778.1:p.Glu215Lys | |
| ENST00000698533.1:c.577G>A | ENSP00000513779.1:p.Glu193Lys | |
| ENST00000698534.1:c.712G>A | ENSP00000513780.1:p.Glu238Lys | |
| ENST00000698578.1:c.712G>A | ENSP00000513807.1:p.Glu238Lys | |
| ENST00000698579.1:c.712G>A | ENSP00000513808.1:p.Glu238Lys | |
| ENST00000698580.1:c.712G>A | ENSP00000513809.1:p.Glu238Lys | |
| ENST00000698581.1:c.712G>A | ENSP00000513810.1:p.Glu238Lys | |
| ENST00000698582.1:c.712G>A | ENSP00000513811.1:p.Glu238Lys | |
| ENST00000698583.1:c.712G>A | ENSP00000513812.1:p.Glu238Lys | |
| ENST00000698584.1:c.712G>A | ENSP00000513813.1:p.Glu238Lys | |
| ENST00000698585.1:c.712G>A | ENSP00000513814.1:p.Glu238Lys | |
| ENST00000698586.1:c.712G>A | ENSP00000513815.1:p.Glu238Lys | |
| ENST00000698587.1:c.748G>A | ENSP00000513816.1:p.Glu250Lys | |
| ENST00000698588.1:c.601G>A | ENSP00000513817.1:p.Glu201Lys | |
| ENST00000698589.1:n.2647G>A | ||
| ENST00000698590.1:c.709G>A | ENSP00000513818.1:p.Glu237Lys | |
| ENST00000698591.1:c.688-41G>A | ENSP00000513819.1:n.688-41G>A | |
| ENST00000698592.1:c.688-518G>A | ENSP00000513820.1:n.688-518G>A | |
| ENST00000698593.1:c.712G>A | ENSP00000513821.1:p.Glu238Lys | |
| ENST00000698594.1:c.505G>A | ENSP00000513822.1:p.Glu169Lys | |
| ENST00000698595.1:c.712G>A | ENSP00000513823.1:p.Glu238Lys | |
| ENST00000698596.1:n.1932G>A | ||
| ENST00000698597.1:c.616G>A | ENSP00000513824.1:p.Glu206Lys | |
| ENST00000698598.1:c.748G>A | ENSP00000513825.1:p.Glu250Lys | |
| ENST00000419023.3:c.640G>A | ENSP00000400143.2:p.Glu214Lys | |
| ENST00000477558.2:n.616G>A | ||
| ENST00000491789.2:c.505G>A | ENSP00000494741.1:p.Glu169Lys | |
| ENST00000642919.1:c.*609G>A | ENSP00000494763.1:n.*609G>A | |
| ENST00000643970.1:c.604G>A | ENSP00000495148.1:p.Glu202Lys | |
| ENST00000644510.2:c.712G>A MANE Select | ENSP00000495563.1:p.Glu238Lys | |
| ENST00000644526.1:c.712G>A | ENSP00000494363.1:p.Glu238Lys | |
| ENST00000644704.1:c.70G>A | ENSP00000495981.1:p.Glu24Lys | |
| ENST00000369128.9:c.397G>A | ENSP00000358124.5:p.Glu133Lys | |
| ENST00000369130.7:c.712G>A | ENSP00000358126.3:p.Glu238Lys | |
| ENST00000419023.2:c.505G>A | ENSP00000400143.1:p.Glu169Lys | |
| ENST00000462852.5:c.580-41G>A | ENSP00000481356.1:n.580-41G>A | |
| ENST00000477558.1:n.614G>A | ||
| ENST00000535106.5:c.397G>A | ENSP00000440690.2:p.Glu133Lys | |
| ENST00000611412.4:c.343G>A | ENSP00000478403.1:p.Glu115Lys | |
| NM_001279353.1:c.397G>A | NP_001266282.1:p.Glu133Lys | |
| NM_001279354.1:c.604G>A | NP_001266283.1:p.Glu202Lys | |
| NM_001279355.1:c.343G>A | NP_001266284.1:p.Glu115Lys | |
| NM_007259.4:c.712G>A | NP_009190.2:p.Glu238Lys | |
| NR_103998.1:n.695G>A | ||
| XR_921733.1:n.827G>A | ||
| XR_921734.1:n.827G>A | ||
| XR_921735.1:n.827G>A | ||
| NM_007259.5:c.712G>A MANE Select | NP_009190.2:p.Glu238Lys | |
| XM_024452791.1:c.604G>A | XP_024308559.1:p.Glu202Lys | |
| XR_921733.3:n.798G>A | ||
| XR_921734.3:n.798G>A | ||
| NM_001279353.2:c.397G>A | NP_001266282.1:p.Glu133Lys | |
| NM_001279354.2:c.604G>A | NP_001266283.1:p.Glu202Lys | |
| NR_103998.2:n.587G>A |