Linked Data
ClinVar Variation Id:
376474
ClinVar RCV Id:
RCV000418134
RCV000419045
RCV000420027
RCV000426905
RCV000427245
RCV000427440
RCV000427928
RCV000428899
RCV000432513
RCV000433205
RCV000435311
RCV000438103
RCV000439562
RCV000438605
RCV000442409
RCV000443002
dbSNP Id:
rs1057519927
gnomAD v2:
3-178936083-A-T
PubMed:
PMID:26619011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179218295A>T , CM000665.2:g.179218295A>T | GRCh38 |
| NC_000003.11:g.178936083A>T , CM000665.1:g.178936083A>T | GRCh37 |
| NC_000003.10:g.180418777A>T | NCBI36 |
| NG_012113.2:g.74773A>T , LRG_310:g.74773A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263967.4:c.1625A>T MANE Select | ENSP00000263967.3:p.Glu542Val | |
| ENST00000462255.2:n.87A>T | ||
| ENST00000643187.1:c.1625A>T | ENSP00000493507.1:p.Glu542Val | |
| ENST00000674534.1:n.1379A>T | ||
| ENST00000674622.1:c.128A>T | ENSP00000502417.1:p.Glu43Val | |
| ENST00000675467.1:n.4432A>T | ||
| ENST00000675786.1:c.*192A>T | ENSP00000502323.1:n.*192A>T | |
| ENST00000263967.3:c.1625A>T | ENSP00000263967.3:p.Glu542Val | |
| NM_006218.2:c.1625A>T , LRG_310t1:c.1625A>T | NP_006209.2:p.Glu542Val | |
| XM_006713658.2:c.1625A>T | XP_006713721.1:p.Glu542Val | |
| XM_011512894.1:c.1625A>T | XP_011511196.1:p.Glu542Val | |
| NM_006218.3:c.1625A>T | NP_006209.2:p.Glu542Val | |
| XM_006713658.4:c.1625A>T | XP_006713721.1:p.Glu542Val | |
| XM_011512894.2:c.1625A>T | XP_011511196.1:p.Glu542Val | |
| NM_006218.4:c.1625A>T MANE Select | NP_006209.2:p.Glu542Val |