Linked Data
ClinVar Variation Id:
3156186
ClinVar RCV Id:
RCV004452064
dbSNP Id:
rs1333360079
gnomAD v2:
1-153963618-C-T
gnomAD v3:
1-153991142-C-T
gnomAD v4:
1-153991142-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.153991142C>T , CM000663.2:g.153991142C>T | GRCh38 |
| NC_000001.10:g.153963618C>T , CM000663.1:g.153963618C>T | GRCh37 |
| NC_000001.9:g.152230242C>T | NCBI36 |
| NG_053102.2:g.5388C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477151.2:n.222C>T | ||
| ENST00000643794.1:c.155C>T | ENSP00000495765.1:p.Ser52Phe | |
| ENST00000651669.1:c.34C>T MANE Select | ENSP00000499044.1:p.Pro12Ser | |
| ENST00000368567.4:c.34C>T | ENSP00000357555.4:p.Pro12Ser | |
| ENST00000392558.4:c.34C>T | ENSP00000376341.4:p.Pro12Ser | |
| ENST00000477151.1:n.189C>T | ||
| ENST00000493224.5:n.300C>T | ||
| NM_001030.4:c.34C>T | NP_001021.1:p.Pro12Ser | |
| NM_001030.6:c.34C>T MANE Select | NP_001021.1:p.Pro12Ser | |
| NM_001349946.1:c.-63C>T | NP_001336875.1:n.-63C>T | |
| NM_001349947.1:c.-63C>T | NP_001336876.1:n.-63C>T | |
| NM_001349946.2:c.-63C>T | NP_001336875.1:n.-63C>T | |
| NM_001349947.2:c.-63C>T | NP_001336876.1:n.-63C>T |