Linked Data
ClinVar Variation Id:
376479
ClinVar RCV Id:
RCV000422135
RCV000427943
RCV000422256
RCV000438620
RCV000432967
RCV000439354
RCV000631208
RCV001526649
dbSNP Id:
rs1057519930
PubMed:
PMID:26619011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179199142G>T , CM000665.2:g.179199142G>T | GRCh38 |
| NC_000003.11:g.178916930G>T , CM000665.1:g.178916930G>T | GRCh37 |
| NC_000003.10:g.180399624G>T | NCBI36 |
| NG_012113.2:g.55620G>T , LRG_310:g.55620G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263967.4:c.317G>T MANE Select | ENSP00000263967.3:p.Gly106Val | |
| ENST00000643187.1:c.317G>T | ENSP00000493507.1:p.Gly106Val | |
| ENST00000675467.1:n.3124G>T | ||
| ENST00000675786.1:c.317G>T | ENSP00000502323.1:p.Gly106Val | |
| ENST00000263967.3:c.317G>T | ENSP00000263967.3:p.Gly106Val | |
| ENST00000468036.1:c.317G>T | ENSP00000417479.1:p.Gly106Val | |
| NM_006218.2:c.317G>T , LRG_310t1:c.317G>T | NP_006209.2:p.Gly106Val | |
| XM_006713658.2:c.317G>T | XP_006713721.1:p.Gly106Val | |
| XM_011512894.1:c.317G>T | XP_011511196.1:p.Gly106Val | |
| NM_006218.3:c.317G>T | NP_006209.2:p.Gly106Val | |
| XM_006713658.4:c.317G>T | XP_006713721.1:p.Gly106Val | |
| XM_011512894.2:c.317G>T | XP_011511196.1:p.Gly106Val | |
| NM_006218.4:c.317G>T MANE Select | NP_006209.2:p.Gly106Val |