Linked Data
ClinVar Variation Id:
156446
ClinVar RCV Id:
RCV000144506
RCV000417602
RCV000422840
RCV000428287
RCV000428959
RCV000440522
RCV000419113
RCV000420426
RCV000424957
RCV000435685
RCV000437640
RCV000439852
RCV001726000
RCV001849317
RCV002254279
RCV002512561
dbSNP Id:
rs587777790
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179199690G>A , CM000665.2:g.179199690G>A | GRCh38 |
| NC_000003.11:g.178917478G>A , CM000665.1:g.178917478G>A | GRCh37 |
| NC_000003.10:g.180400172G>A | NCBI36 |
| NG_012113.2:g.56168G>A , LRG_310:g.56168G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263967.4:c.353G>A MANE Select | ENSP00000263967.3:p.Gly118Asp | |
| ENST00000643187.1:c.353G>A | ENSP00000493507.1:p.Gly118Asp | |
| ENST00000675467.1:n.3160G>A | ||
| ENST00000675786.1:c.353G>A | ENSP00000502323.1:p.Gly118Asp | |
| ENST00000263967.3:c.353G>A | ENSP00000263967.3:p.Gly118Asp | |
| NM_006218.2:c.353G>A , LRG_310t1:c.353G>A | NP_006209.2:p.Gly118Asp | |
| XM_006713658.2:c.353G>A | XP_006713721.1:p.Gly118Asp | |
| XM_011512894.1:c.353G>A | XP_011511196.1:p.Gly118Asp | |
| NM_006218.3:c.353G>A | NP_006209.2:p.Gly118Asp | |
| XM_006713658.4:c.353G>A | XP_006713721.1:p.Gly118Asp | |
| XM_011512894.2:c.353G>A | XP_011511196.1:p.Gly118Asp | |
| NM_006218.4:c.353G>A MANE Select | NP_006209.2:p.Gly118Asp |