Linked Data
dbSNP Id:
rs759526660
ExAC:
1:153963620 A / G
gnomAD v2:
1-153963620-A-G
gnomAD v3:
1-153991144-A-G
gnomAD v4:
1-153991144-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.153991144A>G , CM000663.2:g.153991144A>G | GRCh38 |
| NC_000001.10:g.153963620A>G , CM000663.1:g.153963620A>G | GRCh37 |
| NC_000001.9:g.152230244A>G | NCBI36 |
| NG_053102.2:g.5390A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477151.2:n.224A>G | ||
| ENST00000643794.1:c.157A>G | ENSP00000495765.1:p.Arg53Gly | |
| ENST00000651669.1:c.36A>G MANE Select | ENSP00000499044.1:p.Pro12= | |
| ENST00000368567.4:c.36A>G | ENSP00000357555.4:p.Pro12= | |
| ENST00000392558.4:c.36A>G | ENSP00000376341.4:p.Pro12= | |
| ENST00000477151.1:n.191A>G | ||
| ENST00000493224.5:n.302A>G | ||
| NM_001030.4:c.36A>G | NP_001021.1:p.Pro12= | |
| NM_001030.6:c.36A>G MANE Select | NP_001021.1:p.Pro12= | |
| NM_001349946.1:c.-61A>G | NP_001336875.1:n.-61A>G | |
| NM_001349947.1:c.-61A>G | NP_001336876.1:n.-61A>G | |
| NM_001349946.2:c.-61A>G | NP_001336875.1:n.-61A>G | |
| NM_001349947.2:c.-61A>G | NP_001336876.1:n.-61A>G |