Linked Data
ClinVar Variation Id:
2057360
dbSNP Id:
rs146810634
ExAC:
1:153963613 C / T
gnomAD v2:
1-153963613-C-T
gnomAD v3:
1-153991137-C-T
gnomAD v4:
1-153991137-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.153991137C>T , CM000663.2:g.153991137C>T | GRCh38 |
| NC_000001.10:g.153963613C>T , CM000663.1:g.153963613C>T | GRCh37 |
| NC_000001.9:g.152230237C>T | NCBI36 |
| NG_053102.2:g.5383C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477151.2:n.217C>T | ||
| ENST00000643794.1:c.150C>T | ENSP00000495765.1:p.Ser50= | |
| ENST00000651669.1:c.29C>T MANE Select | ENSP00000499044.1:p.Pro10Leu | |
| ENST00000368567.4:c.29C>T | ENSP00000357555.4:p.Pro10Leu | |
| ENST00000392558.4:c.29C>T | ENSP00000376341.4:p.Pro10Leu | |
| ENST00000477151.1:n.184C>T | ||
| ENST00000493224.5:n.295C>T | ||
| NM_001030.4:c.29C>T | NP_001021.1:p.Pro10Leu | |
| NM_001030.6:c.29C>T MANE Select | NP_001021.1:p.Pro10Leu | |
| NM_001349946.1:c.-68C>T | NP_001336875.1:n.-68C>T | |
| NM_001349947.1:c.-68C>T | NP_001336876.1:n.-68C>T | |
| NM_001349946.2:c.-68C>T | NP_001336875.1:n.-68C>T | |
| NM_001349947.2:c.-68C>T | NP_001336876.1:n.-68C>T |