Linked Data
ClinVar Variation Id:
447571
dbSNP Id:
rs530087850
ExAC:
10:124221583 T / G
gnomAD v2:
10-124221583-T-G
gnomAD v3:
10-122462067-T-G
gnomAD v4:
10-122462067-T-G
PubMed:
PMID:25929831
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122462067T>G , CM000672.2:g.122462067T>G | GRCh38 |
| NC_000010.10:g.124221583T>G , CM000672.1:g.124221583T>G | GRCh37 |
| NC_000010.9:g.124211573T>G | NCBI36 |
| NG_011554.1:g.5543T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.415T>G MANE Select | ENSP00000357980.3:p.Ser139Ala | |
| ENST00000648167.1:c.154+3358T>G | ENSP00000498033.1:n.154+3358T>G | |
| ENST00000368984.7:c.415T>G | ENSP00000357980.3:p.Ser139Ala | |
| NM_002775.4:c.415T>G | NP_002766.1:p.Ser139Ala | |
| NM_002775.5:c.415T>G MANE Select | NP_002766.1:p.Ser139Ala |