Linked Data
ClinVar Variation Id:
1479199
ClinVar RCV Id:
RCV001976661
dbSNP Id:
rs762023030
ExAC:
11:118210553 T / A
gnomAD v2:
11-118210553-T-A
gnomAD v4:
11-118339838-T-A
COSMIC:
COSM4574081
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118339838T>A , CM000673.2:g.118339838T>A | GRCh38 |
| NC_000011.9:g.118210553T>A , CM000673.1:g.118210553T>A | GRCh37 |
| NC_000011.8:g.117715763T>A | NCBI36 |
| NG_007566.1:g.495T>A , LRG_39:g.495T>A | |
| NG_009891.1:g.7907A>T , LRG_37:g.7907A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695666.1:n.830A>T | ||
| ENST00000695667.1:n.348A>T | ||
| ENST00000695668.1:n.2328A>T | ||
| ENST00000300692.9:c.343A>T MANE Select | ENSP00000300692.4:p.Thr115Ser | |
| ENST00000300692.8:c.343A>T | ENSP00000300692.4:p.Thr115Ser | |
| ENST00000392884.2:c.275-344A>T | ENSP00000376622.2:n.275-344A>T | |
| ENST00000526561.1:n.80-344A>T | ||
| ENST00000529594.5:c.124A>T | ENSP00000437335.1:p.Thr42Ser | |
| ENST00000534687.5:c.288-344A>T | ||
| NM_000732.4:c.343A>T , LRG_37t1:c.343A>T | NP_000723.1:p.Thr115Ser | |
| NM_001040651.1:c.275-344A>T | NP_001035741.1:n.275-344A>T | |
| NM_001040651.2:c.275-344A>T | NP_001035741.1:n.275-344A>T | |
| NM_000732.6:c.343A>T MANE Select | NP_000723.1:p.Thr115Ser |