Linked Data
ClinVar Variation Id:
3156187
ClinVar RCV Id:
RCV004452065
dbSNP Id:
rs757903195
ExAC:
1:153963670 A / G
gnomAD v2:
1-153963670-A-G
gnomAD v3:
1-153991194-A-G
gnomAD v4:
1-153991194-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.153991194A>G , CM000663.2:g.153991194A>G | GRCh38 |
| NC_000001.10:g.153963670A>G , CM000663.1:g.153963670A>G | GRCh37 |
| NC_000001.9:g.152230294A>G | NCBI36 |
| NG_053102.2:g.5440A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477151.2:n.274A>G | ||
| ENST00000643794.1:c.207A>G | ENSP00000495765.1:p.Gln69= | |
| ENST00000651669.1:c.86A>G MANE Select | ENSP00000499044.1:p.Asn29Ser | |
| ENST00000368567.4:c.86A>G | ENSP00000357555.4:p.Asn29Ser | |
| ENST00000392558.4:c.86A>G | ENSP00000376341.4:p.Asn29Ser | |
| ENST00000477151.1:n.241A>G | ||
| ENST00000493224.5:n.352A>G | ||
| NM_001030.4:c.86A>G | NP_001021.1:p.Asn29Ser | |
| NM_001030.6:c.86A>G MANE Select | NP_001021.1:p.Asn29Ser | |
| NM_001349946.1:c.-11A>G | NP_001336875.1:n.-11A>G | |
| NM_001349947.1:c.-11A>G | NP_001336876.1:n.-11A>G | |
| NM_001349946.2:c.-11A>G | NP_001336875.1:n.-11A>G | |
| NM_001349947.2:c.-11A>G | NP_001336876.1:n.-11A>G |