Linked Data
ClinVar Variation Id:
456613
ClinVar RCV Id:
RCV002448620
dbSNP Id:
rs370504033
ExAC:
1:156851377 C / T
gnomAD v2:
1-156851377-C-T
gnomAD v3:
1-156881585-C-T
gnomAD v4:
1-156881585-C-T
COSMIC:
COSM20540
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156881585C>T , CM000663.2:g.156881585C>T | GRCh38 |
| NC_000001.10:g.156851377C>T , CM000663.1:g.156851377C>T | GRCh37 |
| NC_000001.9:g.155118001C>T | NCBI36 |
| NG_007493.1:g.70836C>T , LRG_261:g.70836C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000674537.2:c.2154C>T | ENSP00000502725.1:p.His718= | |
| ENST00000392302.7:c.2154C>T | ENSP00000376120.3:p.His718= | |
| ENST00000497019.7:c.*926C>T | ENSP00000436804.2:n.*926C>T | |
| ENST00000524377.7:c.2334C>T MANE Select | ENSP00000431418.1:p.His778= | |
| ENST00000531606.2:c.393C>T | ||
| ENST00000674537.1:c.2154C>T | ENSP00000502725.1:p.His718= | |
| ENST00000358660.3:c.2325C>T | ENSP00000351486.3:p.His775= | |
| ENST00000368196.7:c.2316C>T | ENSP00000357179.3:p.His772= | |
| ENST00000392302.6:c.2226C>T | ENSP00000376120.2:p.His742= | |
| ENST00000497019.6:c.*926C>T | ENSP00000436804.1:n.*926C>T | |
| ENST00000524377.5:c.2334C>T | ENSP00000431418.1:p.His778= | |
| ENST00000530298.5:n.2787C>T | ||
| ENST00000531606.1:n.377C>T | ||
| NM_001007792.1:c.2226C>T , LRG_261t1:c.2226C>T | NP_001007793.1:p.His742= | |
| NM_001012331.1:c.2316C>T , LRG_261t2:c.2316C>T | NP_001012331.1:p.His772= | |
| NM_002529.3:c.2334C>T , LRG_261t3:c.2334C>T | NP_002520.2:p.His778= | |
| NM_001012331.2:c.2316C>T | NP_001012331.1:p.His772= | |
| NM_002529.4:c.2334C>T MANE Select | NP_002520.2:p.His778= |