Linked Data
ClinVar Variation Id:
376482
ClinVar RCV Id:
RCV000421221
RCV000421413
RCV000425975
RCV000426940
RCV000431459
RCV000432535
RCV000436960
RCV000437184
RCV000442136
RCV000442739
RCV000442943
RCV003147452
dbSNP Id:
rs1057519933
PubMed:
PMID:26619011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179199156A>G , CM000665.2:g.179199156A>G | GRCh38 |
| NC_000003.11:g.178916944A>G , CM000665.1:g.178916944A>G | GRCh37 |
| NC_000003.10:g.180399638A>G | NCBI36 |
| NG_012113.2:g.55634A>G , LRG_310:g.55634A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263967.4:c.331A>G MANE Select | ENSP00000263967.3:p.Lys111Glu | |
| ENST00000643187.1:c.331A>G | ENSP00000493507.1:p.Lys111Glu | |
| ENST00000675467.1:n.3138A>G | ||
| ENST00000675786.1:c.331A>G | ENSP00000502323.1:p.Lys111Glu | |
| ENST00000263967.3:c.331A>G | ENSP00000263967.3:p.Lys111Glu | |
| ENST00000468036.1:c.331A>G | ENSP00000417479.1:p.Lys111Glu | |
| NM_006218.2:c.331A>G , LRG_310t1:c.331A>G | NP_006209.2:p.Lys111Glu | |
| XM_006713658.2:c.331A>G | XP_006713721.1:p.Lys111Glu | |
| XM_011512894.1:c.331A>G | XP_011511196.1:p.Lys111Glu | |
| NM_006218.3:c.331A>G | NP_006209.2:p.Lys111Glu | |
| XM_006713658.4:c.331A>G | XP_006713721.1:p.Lys111Glu | |
| XM_011512894.2:c.331A>G | XP_011511196.1:p.Lys111Glu | |
| NM_006218.4:c.331A>G MANE Select | NP_006209.2:p.Lys111Glu |