Linked Data
ClinVar Variation Id:
39703
ClinVar RCV Id:
RCV000032907
RCV000414672
RCV001327966
RCV001594376
RCV001836717
RCV001852661
RCV002254272
RCV002274888
RCV003233078
dbSNP Id:
rs587776932
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179230077G>A , CM000665.2:g.179230077G>A | GRCh38 |
| NC_000003.11:g.178947865G>A , CM000665.1:g.178947865G>A | GRCh37 |
| NC_000003.10:g.180430559G>A | NCBI36 |
| NG_012113.2:g.86555G>A , LRG_310:g.86555G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263967.4:c.2740G>A MANE Select | ENSP00000263967.3:p.Gly914Arg | |
| ENST00000462255.2:n.1763G>A | ||
| ENST00000643187.1:c.2740G>A | ENSP00000493507.1:p.Gly914Arg | |
| ENST00000674534.1:n.3648G>A | ||
| ENST00000674622.1:c.1161G>A | ENSP00000502417.1:n.1161G>A | |
| ENST00000675467.1:n.5547G>A | ||
| ENST00000675786.1:c.*1307G>A | ENSP00000502323.1:n.*1307G>A | |
| ENST00000675796.1:n.2635G>A | ||
| ENST00000263967.3:c.2740G>A | ENSP00000263967.3:p.Gly914Arg | |
| NM_006218.2:c.2740G>A , LRG_310t1:c.2740G>A | NP_006209.2:p.Gly914Arg | |
| XM_006713658.2:c.2740G>A | XP_006713721.1:p.Gly914Arg | |
| XM_011512894.1:c.2740G>A | XP_011511196.1:p.Gly914Arg | |
| NM_006218.3:c.2740G>A | NP_006209.2:p.Gly914Arg | |
| XM_006713658.4:c.2740G>A | XP_006713721.1:p.Gly914Arg | |
| XM_011512894.2:c.2740G>A | XP_011511196.1:p.Gly914Arg | |
| NM_006218.4:c.2740G>A MANE Select | NP_006209.2:p.Gly914Arg |