Linked Data
dbSNP Id:
rs748285244
ExAC:
1:153963606 C / T
gnomAD v2:
1-153963606-C-T
gnomAD v3:
1-153991130-C-T
gnomAD v4:
1-153991130-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.153991130C>T , CM000663.2:g.153991130C>T | GRCh38 |
| NC_000001.10:g.153963606C>T , CM000663.1:g.153963606C>T | GRCh37 |
| NC_000001.9:g.152230230C>T | NCBI36 |
| NG_053102.2:g.5376C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477151.2:n.210C>T | ||
| ENST00000643794.1:c.143C>T | ENSP00000495765.1:p.Pro48Leu | |
| ENST00000651669.1:c.22C>T MANE Select | ENSP00000499044.1:p.Leu8Phe | |
| ENST00000368567.4:c.22C>T | ENSP00000357555.4:p.Leu8Phe | |
| ENST00000392558.4:c.22C>T | ENSP00000376341.4:p.Leu8Phe | |
| ENST00000477151.1:n.177C>T | ||
| ENST00000493224.5:n.288C>T | ||
| NM_001030.4:c.22C>T | NP_001021.1:p.Leu8Phe | |
| NM_001030.6:c.22C>T MANE Select | NP_001021.1:p.Leu8Phe | |
| NM_001349946.1:c.-75C>T | NP_001336875.1:n.-75C>T | |
| NM_001349947.1:c.-75C>T | NP_001336876.1:n.-75C>T | |
| NM_001349946.2:c.-75C>T | NP_001336875.1:n.-75C>T | |
| NM_001349947.2:c.-75C>T | NP_001336876.1:n.-75C>T |