Linked Data
ClinVar Variation Id:
285116
dbSNP Id:
rs113994047
ExAC:
3:183854445 G / A
gnomAD v2:
3-183854445-G-A
gnomAD v3:
3-184136657-G-A
gnomAD v4:
3-184136657-G-A
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184136657G>A , CM000665.2:g.184136657G>A | GRCh38 |
| NC_000003.11:g.183854445G>A , CM000665.1:g.183854445G>A | GRCh37 |
| NC_000003.10:g.185337139G>A | NCBI36 |
| NG_015826.1:g.6636G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000432569.2:c.241G>A | ENSP00000414775.1:p.Glu81Lys | |
| ENST00000465218.3:n.264G>A | ||
| ENST00000468748.7:n.224G>A | ||
| ENST00000471832.2:c.*235G>A | ENSP00000497786.1:n.*235G>A | |
| ENST00000491008.6:n.106G>A | ||
| ENST00000492226.2:n.238G>A | ||
| ENST00000647636.1:c.241G>A | ENSP00000497505.1:p.Glu81Lys | |
| ENST00000647909.1:c.241G>A | ENSP00000498164.1:p.Glu81Lys | |
| ENST00000648145.1:c.9G>A | ||
| ENST00000648256.1:c.190G>A | ENSP00000497356.1:p.Glu64Lys | |
| ENST00000648314.1:c.241G>A | ENSP00000496920.1:p.Glu81Lys | |
| ENST00000648599.1:c.241G>A | ENSP00000497159.1:p.Glu81Lys | |
| ENST00000648630.1:c.235G>A | ENSP00000497887.1:p.Glu79Lys | |
| ENST00000648682.1:c.241G>A | ENSP00000498185.1:p.Glu81Lys | |
| ENST00000648882.1:c.*67G>A | ENSP00000497603.1:n.*67G>A | |
| ENST00000648890.1:c.241G>A | ENSP00000497503.1:p.Glu81Lys | |
| ENST00000648915.2:c.241G>A MANE Select | ENSP00000497160.1:p.Glu81Lys | |
| ENST00000649688.1:c.241G>A | ENSP00000497097.1:p.Glu81Lys | |
| ENST00000649814.1:n.290G>A | ||
| ENST00000650244.1:c.386G>A | ENSP00000497227.1:n.386G>A | |
| ENST00000650270.1:c.108G>A | ||
| ENST00000273783.7:c.241G>A | ENSP00000273783.3:p.Glu81Lys | |
| ENST00000432569.1:c.241G>A | ENSP00000414775.1:p.Glu81Lys | |
| ENST00000432982.5:c.227G>A | ||
| ENST00000444495.1:c.241G>A | ENSP00000409142.1:p.Glu81Lys | |
| ENST00000471832.1:n.172G>A | ||
| ENST00000481054.5:n.242G>A | ||
| ENST00000491144.5:n.589G>A | ||
| ENST00000498831.1:n.97G>A | ||
| NM_003907.2:c.241G>A | NP_003898.2:p.Glu81Lys | |
| XR_924208.1:n.1192G>A | ||
| NM_003907.3:c.241G>A MANE Select | NP_003898.2:p.Glu81Lys | |
| XM_011513266.3:c.-661G>A | XP_011511568.1:n.-661G>A | |
| XR_001740352.2:n.604G>A | ||
| XR_001740353.2:n.604G>A | ||
| XR_924208.2:n.604G>A |