Linked Data
ClinVar Variation Id:
208848
ClinVar RCV Id:
RCV000190882
dbSNP Id:
rs797045137
PubMed:
PMID:25298308
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1758994C>A , CM000673.2:g.1758994C>A | GRCh38 |
| NC_000011.9:g.1780224C>A , CM000673.1:g.1780224C>A | GRCh37 |
| NC_000011.8:g.1736800C>A | NCBI36 |
| NG_008655.1:g.9999G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236671.7:c.446G>T MANE Select | ENSP00000236671.2:p.Gly149Val | |
| ENST00000367196.4:c.341G>T | ENSP00000356164.4:p.Gly114Val | |
| ENST00000429746.2:c.341G>T | ENSP00000402586.2:p.Gly114Val | |
| ENST00000433655.6:c.446G>T | ENSP00000404902.1:p.Gly149Val | |
| ENST00000438213.6:c.446G>T | ENSP00000415036.2:p.Gly149Val | |
| ENST00000636397.1:c.446G>T | ENSP00000489910.1:p.Gly149Val | |
| ENST00000636571.1:c.425G>T | ENSP00000490770.1:p.Gly142Val | |
| ENST00000636615.1:c.446G>T | ENSP00000490014.1:p.Gly149Val | |
| ENST00000636843.1:c.440G>T | ENSP00000490897.1:p.Gly147Val | |
| ENST00000637381.2:n.2874G>T | ||
| ENST00000637387.1:c.446G>T | ENSP00000490598.1:p.Gly149Val | |
| ENST00000637815.2:c.446G>T | ENSP00000490344.1:p.Gly149Val | |
| ENST00000637915.1:c.446G>T | ENSP00000490471.1:p.Gly149Val | |
| ENST00000677300.1:n.841G>T | ||
| ENST00000678991.1:c.*307G>T | ENSP00000503019.1:n.*307G>T | |
| ENST00000236671.6:c.446G>T | ENSP00000236671.2:p.Gly149Val | |
| ENST00000367196.3:c.341G>T | ENSP00000356164.3:p.Gly114Val | |
| ENST00000427721.2:c.-155G>T | ENSP00000415840.2:n.-155G>T | |
| ENST00000433655.5:c.446G>T | ENSP00000404902.1:p.Gly149Val | |
| ENST00000438213.5:c.401G>T | ENSP00000415036.1:p.Gly134Val | |
| NM_001909.4:c.446G>T | NP_001900.1:p.Gly149Val | |
| NM_001909.5:c.446G>T MANE Select | NP_001900.1:p.Gly149Val |