Linked Data
dbSNP Id:
rs1192437249
gnomAD v2:
1-153963653-C-G
gnomAD v3:
1-153991177-C-G
gnomAD v4:
1-153991177-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.153991177C>G , CM000663.2:g.153991177C>G | GRCh38 |
| NC_000001.10:g.153963653C>G , CM000663.1:g.153963653C>G | GRCh37 |
| NC_000001.9:g.152230277C>G | NCBI36 |
| NG_053102.2:g.5423C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477151.2:n.257C>G | ||
| ENST00000643794.1:c.190C>G | ENSP00000495765.1:p.Pro64Ala | |
| ENST00000651669.1:c.69C>G MANE Select | ENSP00000499044.1:p.Arg23= | |
| ENST00000368567.4:c.69C>G | ENSP00000357555.4:p.Arg23= | |
| ENST00000392558.4:c.69C>G | ENSP00000376341.4:p.Arg23= | |
| ENST00000477151.1:n.224C>G | ||
| ENST00000493224.5:n.335C>G | ||
| NM_001030.4:c.69C>G | NP_001021.1:p.Arg23= | |
| NM_001030.6:c.69C>G MANE Select | NP_001021.1:p.Arg23= | |
| NM_001349946.1:c.-28C>G | NP_001336875.1:n.-28C>G | |
| NM_001349947.1:c.-28C>G | NP_001336876.1:n.-28C>G | |
| NM_001349946.2:c.-28C>G | NP_001336875.1:n.-28C>G | |
| NM_001349947.2:c.-28C>G | NP_001336876.1:n.-28C>G |