Linked Data
ClinVar Variation Id:
376472
ClinVar RCV Id:
RCV000421529
RCV000423873
RCV000425686
RCV000431793
RCV000431356
RCV000432477
RCV000434200
RCV000439172
RCV000441605
RCV000442046
dbSNP Id:
rs1057519926
PubMed:
PMID:26619011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179210293A>T , CM000665.2:g.179210293A>T | GRCh38 |
| NC_000003.11:g.178928081A>T , CM000665.1:g.178928081A>T | GRCh37 |
| NC_000003.10:g.180410775A>T | NCBI36 |
| NG_012113.2:g.66771A>T , LRG_310:g.66771A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263967.4:c.1359A>T MANE Select | ENSP00000263967.3:p.Glu453Asp | |
| ENST00000643187.1:c.1359A>T | ENSP00000493507.1:p.Glu453Asp | |
| ENST00000674534.1:n.1113A>T | ||
| ENST00000675467.1:n.4166A>T | ||
| ENST00000675786.1:c.1359A>T | ENSP00000502323.1:p.Glu453Asp | |
| ENST00000263967.3:c.1359A>T | ENSP00000263967.3:p.Glu453Asp | |
| NM_006218.2:c.1359A>T , LRG_310t1:c.1359A>T | NP_006209.2:p.Glu453Asp | |
| XM_006713658.2:c.1359A>T | XP_006713721.1:p.Glu453Asp | |
| XM_011512894.1:c.1359A>T | XP_011511196.1:p.Glu453Asp | |
| NM_006218.3:c.1359A>T | NP_006209.2:p.Glu453Asp | |
| XM_006713658.4:c.1359A>T | XP_006713721.1:p.Glu453Asp | |
| XM_011512894.2:c.1359A>T | XP_011511196.1:p.Glu453Asp | |
| NM_006218.4:c.1359A>T MANE Select | NP_006209.2:p.Glu453Asp |