Linked Data
ClinVar Variation Id:
1158772
dbSNP Id:
rs771373271
ExAC:
1:241675387 T / C
gnomAD v2:
1-241675387-T-C
gnomAD v3:
1-241512087-T-C
gnomAD v4:
1-241512087-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241512087T>C , CM000663.2:g.241512087T>C | GRCh38 |
| NC_000001.10:g.241675387T>C , CM000663.1:g.241675387T>C | GRCh37 |
| NC_000001.9:g.239742010T>C | NCBI36 |
| NG_012338.1:g.12668A>G , LRG_504:g.12668A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.938A>G | ||
| ENST00000682162.1:c.464A>G | ENSP00000508203.1:n.464A>G | |
| ENST00000682567.1:n.512A>G | ||
| ENST00000683521.1:c.435A>G | ENSP00000506864.1:p.Ser145= | |
| ENST00000684483.1:c.435A>G | ENSP00000507894.1:p.Ser145= | |
| ENST00000366560.4:c.435A>G MANE Select | ENSP00000355518.4:p.Ser145= | |
| ENST00000366560.3:c.435A>G | ENSP00000355518.3:p.Ser145= | |
| ENST00000497042.1:n.131A>G | ||
| NM_000143.3:c.435A>G , LRG_504t1:c.435A>G | NP_000134.2:p.Ser145= | |
| XM_011544132.1:c.207A>G | XP_011542434.1:p.Ser69= | |
| XM_011544132.2:c.207A>G | XP_011542434.1:p.Ser69= | |
| NM_000143.4:c.435A>G MANE Select | NP_000134.2:p.Ser145= |