Linked Data
ClinVar Variation Id:
474802
dbSNP Id:
rs35299792
ExAC:
11:118183552 C / T
gnomAD v2:
11-118183552-C-T
gnomAD v3:
11-118312837-C-T
gnomAD v4:
11-118312837-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118312837C>T , CM000673.2:g.118312837C>T | GRCh38 |
| NC_000011.9:g.118183552C>T , CM000673.1:g.118183552C>T | GRCh37 |
| NC_000011.8:g.117688762C>T | NCBI36 |
| NG_007383.1:g.13258C>T , LRG_38:g.13258C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361763.9:c.323C>T MANE Select | ENSP00000354566.4:p.Ala108Val | |
| ENST00000361763.8:c.323C>T | ENSP00000354566.4:p.Ala108Val | |
| ENST00000526146.5:n.869C>T | ||
| ENST00000528435.5:n.876C>T | ||
| ENST00000528600.1:c.305C>T | ENSP00000433975.1:p.Ala102Val | |
| ENST00000529713.5:n.429C>T | ||
| ENST00000531913.1:n.694C>T | ||
| NM_000733.3:c.323C>T , LRG_38t1:c.323C>T | NP_000724.1:p.Ala108Val | |
| NM_000733.4:c.323C>T MANE Select | NP_000724.1:p.Ala108Val |