Linked Data
ClinVar Variation Id:
37036
ClinVar RCV Id:
RCV000030696
dbSNP Id:
rs387907266
PubMed:
PMID:22801503
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4945970C>A , CM000679.2:g.4945970C>A | GRCh38 |
| NC_000017.10:g.4849265C>A , CM000679.1:g.4849265C>A | GRCh37 |
| NC_000017.9:g.4790010C>A | NCBI36 |
| NG_012063.2:g.4880C>A | |
| NG_032945.1:g.8117G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225655.6:c.353G>T MANE Select | ENSP00000225655.5:p.Gly118Val | |
| ENST00000225655.5:c.353G>T | ENSP00000225655.5:p.Gly118Val | |
| ENST00000574872.1:c.245G>T | ENSP00000465019.1:p.Gly82Val | |
| NM_005022.3:c.353G>T | NP_005013.1:p.Gly118Val | |
| XM_017024761.1:c.*437G>T | XP_016880250.1:n.*437G>T | |
| NM_001375991.1:c.*437G>T | NP_001362920.1:n.*437G>T | |
| NM_005022.4:c.353G>T MANE Select | NP_005013.1:p.Gly118Val |