Linked Data
ClinVar Variation Id:
370413
ClinVar RCV Id:
RCV000410240
dbSNP Id:
rs145882709
ExAC:
11:112103939 C / A
gnomAD v2:
11-112103939-C-A
gnomAD v3:
11-112233216-C-A
gnomAD v4:
11-112233216-C-A
PubMed:
PMID:23942198
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112233216C>A , CM000673.2:g.112233216C>A | GRCh38 |
| NC_000011.9:g.112103939C>A , CM000673.1:g.112103939C>A | GRCh37 |
| NC_000011.8:g.111609149C>A | NCBI36 |
| NG_008743.1:g.11852C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000280362.8:c.297C>A MANE Select | ENSP00000280362.3:p.Tyr99Ter | |
| ENST00000280362.7:c.297C>A | ENSP00000280362.3:p.Tyr99Ter | |
| ENST00000524931.1:c.93C>A | ENSP00000434688.1:p.Tyr31Ter | |
| ENST00000525803.1:c.*31C>A | ENSP00000431750.1:n.*31C>A | |
| ENST00000527428.5:n.471C>A | ||
| ENST00000527635.1:n.338C>A | ||
| ENST00000528679.5:c.*106C>A | ENSP00000435895.1:n.*106C>A | |
| ENST00000531175.1:n.248C>A | ||
| ENST00000531673.5:c.*106C>A | ENSP00000433469.1:n.*106C>A | |
| NM_000317.2:c.297C>A | NP_000308.1:p.Tyr99Ter | |
| XM_011542943.1:c.258C>A | XP_011541245.1:p.Tyr86Ter | |
| NM_000317.3:c.297C>A MANE Select | NP_000308.1:p.Tyr99Ter |