Linked Data
ClinVar Variation Id:
133547
dbSNP Id:
rs145886877
ExAC:
1:27099108 C / T
gnomAD v2:
1-27099108-C-T
gnomAD v3:
1-26772617-C-T
gnomAD v4:
1-26772617-C-T
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26772617C>T , CM000663.2:g.26772617C>T | GRCh38 |
| NC_000001.10:g.27099108C>T , CM000663.1:g.27099108C>T | GRCh37 |
| NC_000001.9:g.26971695C>T | NCBI36 |
| NG_029965.1:g.81587C>T , LRG_875:g.81587C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324856.13:c.3524C>T MANE Select | ENSP00000320485.7:p.Pro1175Leu | |
| ENST00000374152.7:c.2375C>T | ENSP00000363267.2:p.Pro792Leu | |
| ENST00000430799.7:c.2375C>T | ENSP00000390317.3:p.Pro792Leu | |
| ENST00000636110.1:n.3444C>T | ||
| ENST00000636219.1:c.2381C>T | ENSP00000489842.1:p.Pro794Leu | |
| ENST00000324856.11:c.3524C>T | ENSP00000320485.7:p.Pro1175Leu | |
| ENST00000374152.6:c.2375C>T | ENSP00000363267.2:p.Pro792Leu | |
| ENST00000430799.6:c.216C>T | ||
| ENST00000457599.6:c.3524C>T | ENSP00000387636.2:p.Pro1175Leu | |
| ENST00000615191.4:c.2372C>T | ENSP00000478955.1:p.Pro791Leu | |
| NM_006015.4:c.3524C>T , LRG_875t1:c.3524C>T | NP_006006.3:p.Pro1175Leu | |
| NM_139135.2:c.3524C>T | NP_624361.1:p.Pro1175Leu | |
| NM_006015.5:c.3524C>T | NP_006006.3:p.Pro1175Leu | |
| NM_139135.3:c.3524C>T | NP_624361.1:p.Pro1175Leu | |
| NM_006015.6:c.3524C>T MANE Select | NP_006006.3:p.Pro1175Leu | |
| NM_139135.4:c.3524C>T | NP_624361.1:p.Pro1175Leu |