Linked Data
ClinVar Variation Id:
13656
ClinVar RCV Id:
RCV000014637
RCV000014638
RCV000418146
RCV000418281
RCV000424637
RCV000429485
RCV000418099
RCV000433644
RCV000423395
RCV000427900
RCV000429420
RCV000429663
RCV000434718
RCV000434929
RCV000439693
RCV000422071
RCV000424828
RCV000439270
RCV000442411
RCV000418752
RCV000419402
RCV000427099
RCV000433665
RCV000435973
RCV000438613
RCV000440826
RCV000443425
dbSNP Id:
rs121913274
gnomAD v2:
3-178936092-A-G
PubMed:
PMID:15016963
PMID:15254419
PMID:15520168
PMID:15608678
PMID:15647370
PMID:15805248
PMID:17673550
PMID:18676830
PMID:18725974
PMID:19366826
PMID:19903786
PMID:20453058
PMID:20619739
PMID:22162582
PMID:22162589
PMID:23246288
PMID:24265155
PMID:25157968
PMID:26619011
CIViC:
CA123336
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179218304A>G , CM000665.2:g.179218304A>G | GRCh38 |
| NC_000003.11:g.178936092A>G , CM000665.1:g.178936092A>G | GRCh37 |
| NC_000003.10:g.180418786A>G | NCBI36 |
| NG_012113.2:g.74782A>G , LRG_310:g.74782A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263967.4:c.1634A>G MANE Select | ENSP00000263967.3:p.Glu545Gly | |
| ENST00000462255.2:n.96A>G | ||
| ENST00000643187.1:c.1634A>G | ENSP00000493507.1:p.Glu545Gly | |
| ENST00000674534.1:n.1388A>G | ||
| ENST00000674622.1:c.137A>G | ENSP00000502417.1:p.Glu46Gly | |
| ENST00000675467.1:n.4441A>G | ||
| ENST00000675786.1:c.*201A>G | ENSP00000502323.1:n.*201A>G | |
| ENST00000263967.3:c.1634A>G | ENSP00000263967.3:p.Glu545Gly | |
| NM_006218.2:c.1634A>G , LRG_310t1:c.1634A>G | NP_006209.2:p.Glu545Gly | |
| XM_006713658.2:c.1634A>G | XP_006713721.1:p.Glu545Gly | |
| XM_011512894.1:c.1634A>G | XP_011511196.1:p.Glu545Gly | |
| NM_006218.3:c.1634A>G | NP_006209.2:p.Glu545Gly | |
| XM_006713658.4:c.1634A>G | XP_006713721.1:p.Glu545Gly | |
| XM_011512894.2:c.1634A>G | XP_011511196.1:p.Glu545Gly | |
| NM_006218.4:c.1634A>G MANE Select | NP_006209.2:p.Glu545Gly |