Linked Data
ClinVar Variation Id:
14802
ClinVar RCV Id:
RCV000015925
dbSNP Id:
rs121912424
gnomAD v2:
17-62007455-C-T
gnomAD v4:
17-63930095-C-T
COSMIC:
COSM332713
PubMed:
PMID:17675462
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63930095C>T , CM000679.2:g.63930095C>T | GRCh38 |
| NC_000017.10:g.62007455C>T , CM000679.1:g.62007455C>T | GRCh37 |
| NC_000017.9:g.59361187C>T | NCBI36 |
| NG_007368.1:g.7250G>A , LRG_43:g.7250G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698624.1:n.406G>A | ||
| ENST00000006750.8:c.409G>A MANE Select | ENSP00000006750.4:p.Gly137Ser | |
| ENST00000647774.1:c.52-207G>A | ||
| ENST00000006750.7:c.409G>A | ENSP00000006750.3:p.Gly137Ser | |
| ENST00000349817.2:c.119-207G>A | ENSP00000245862.2:n.119-207G>A | |
| ENST00000392795.7:c.412G>A | ENSP00000376544.3:p.Gly138Ser | |
| ENST00000559358.1:n.420G>A | ||
| NM_000626.2:c.409G>A | NP_000617.1:p.Gly137Ser | |
| NM_001039933.1:c.412G>A , LRG_43t1:c.412G>A | NP_001035022.1:p.Gly138Ser | |
| NM_021602.2:c.119-207G>A | NP_067613.1:n.119-207G>A | |
| XM_005257858.3:c.122-207G>A | XP_005257915.1:n.122-207G>A | |
| NM_000626.3:c.409G>A | NP_000617.1:p.Gly137Ser | |
| NM_001039933.2:c.412G>A | NP_001035022.1:p.Gly138Ser | |
| NM_001329050.1:c.122-207G>A | NP_001315979.1:n.122-207G>A | |
| NM_021602.3:c.119-207G>A | NP_067613.1:n.119-207G>A | |
| NM_000626.4:c.409G>A MANE Select | NP_000617.1:p.Gly137Ser | |
| NM_001039933.3:c.412G>A | NP_001035022.1:p.Gly138Ser | |
| NM_001329050.2:c.122-207G>A | NP_001315979.1:n.122-207G>A | |
| NM_021602.4:c.119-207G>A | NP_067613.1:n.119-207G>A |