Linked Data
ClinVar Variation Id:
526724
dbSNP Id:
rs764645590
ExAC:
1:156843449 C / T
gnomAD v2:
1-156843449-C-T
gnomAD v3:
1-156873657-C-T
gnomAD v4:
1-156873657-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156873657C>T , CM000663.2:g.156873657C>T | GRCh38 |
| NC_000001.10:g.156843449C>T , CM000663.1:g.156843449C>T | GRCh37 |
| NC_000001.9:g.155110073C>T | NCBI36 |
| NG_007493.1:g.62908C>T , LRG_261:g.62908C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000674537.2:c.713C>T | ENSP00000502725.1:p.Thr238Met | |
| ENST00000392302.7:c.713C>T | ENSP00000376120.3:p.Thr238Met | |
| ENST00000497019.7:c.580C>T | ENSP00000436804.2:p.Arg194Trp | |
| ENST00000524377.7:c.875C>T MANE Select | ENSP00000431418.1:p.Thr292Met | |
| ENST00000674537.1:c.713C>T | ENSP00000502725.1:p.Thr238Met | |
| ENST00000358660.3:c.875C>T | ENSP00000351486.3:p.Thr292Met | |
| ENST00000368196.7:c.875C>T | ENSP00000357179.3:p.Thr292Met | |
| ENST00000392302.6:c.785C>T | ENSP00000376120.2:p.Thr262Met | |
| ENST00000489021.6:n.337C>T | ||
| ENST00000497019.6:c.652C>T | ENSP00000436804.1:p.Arg218Trp | |
| ENST00000524377.5:c.875C>T | ENSP00000431418.1:p.Thr292Met | |
| ENST00000530298.5:n.933C>T | ||
| NM_001007792.1:c.785C>T , LRG_261t1:c.785C>T | NP_001007793.1:p.Thr262Met | |
| NM_001012331.1:c.875C>T , LRG_261t2:c.875C>T | NP_001012331.1:p.Thr292Met | |
| NM_002529.3:c.875C>T , LRG_261t3:c.875C>T | NP_002520.2:p.Thr292Met | |
| NM_001012331.2:c.875C>T | NP_001012331.1:p.Thr292Met | |
| NM_002529.4:c.875C>T MANE Select | NP_002520.2:p.Thr292Met |