Linked Data
ClinVar Variation Id:
376473
ClinVar RCV Id:
RCV000419304
RCV000417967
RCV000421246
RCV000420824
RCV000421834
RCV000426519
RCV000426815
RCV000428636
RCV000430621
RCV000432777
RCV000437064
RCV000438048
RCV000438466
RCV000439966
RCV000441350
RCV000441904
RCV001255685
dbSNP Id:
rs1057519927
PubMed:
PMID:26619011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179218295A>C , CM000665.2:g.179218295A>C | GRCh38 |
| NC_000003.11:g.178936083A>C , CM000665.1:g.178936083A>C | GRCh37 |
| NC_000003.10:g.180418777A>C | NCBI36 |
| NG_012113.2:g.74773A>C , LRG_310:g.74773A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263967.4:c.1625A>C MANE Select | ENSP00000263967.3:p.Glu542Ala | |
| ENST00000462255.2:n.87A>C | ||
| ENST00000643187.1:c.1625A>C | ENSP00000493507.1:p.Glu542Ala | |
| ENST00000674534.1:n.1379A>C | ||
| ENST00000674622.1:c.128A>C | ENSP00000502417.1:p.Glu43Ala | |
| ENST00000675467.1:n.4432A>C | ||
| ENST00000675786.1:c.*192A>C | ENSP00000502323.1:n.*192A>C | |
| ENST00000263967.3:c.1625A>C | ENSP00000263967.3:p.Glu542Ala | |
| NM_006218.2:c.1625A>C , LRG_310t1:c.1625A>C | NP_006209.2:p.Glu542Ala | |
| XM_006713658.2:c.1625A>C | XP_006713721.1:p.Glu542Ala | |
| XM_011512894.1:c.1625A>C | XP_011511196.1:p.Glu542Ala | |
| NM_006218.3:c.1625A>C | NP_006209.2:p.Glu542Ala | |
| XM_006713658.4:c.1625A>C | XP_006713721.1:p.Glu542Ala | |
| XM_011512894.2:c.1625A>C | XP_011511196.1:p.Glu542Ala | |
| NM_006218.4:c.1625A>C MANE Select | NP_006209.2:p.Glu542Ala |