Linked Data
ClinVar Variation Id:
406312
dbSNP Id:
rs536503540
ExAC:
15:48703503 T / C
gnomAD v2:
15-48703503-T-C
gnomAD v3:
15-48411306-T-C
gnomAD v4:
15-48411306-T-C
PubMed:
PMID:26333736
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48411306T>C , CM000677.2:g.48411306T>C | GRCh38 |
| NC_000015.9:g.48703503T>C , CM000677.1:g.48703503T>C | GRCh37 |
| NC_000015.8:g.46490795T>C | NCBI36 |
| NG_008805.2:g.239483A>G , LRG_778:g.239483A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1108A>G | ENSP00000453958.2:n.*1108A>G | |
| ENST00000674301.2:c.*1813A>G | ENSP00000501333.2:n.*1813A>G | |
| ENST00000682158.1:n.1681A>G | ||
| ENST00000682170.1:n.2481A>G | ||
| ENST00000682767.1:n.1597A>G | ||
| ENST00000316623.10:c.8300A>G MANE Select | ENSP00000325527.5:p.Asn2767Ser | |
| ENST00000674301.1:c.3466A>G | ENSP00000501333.1:n.3466A>G | |
| ENST00000316623.9:c.8300A>G | ENSP00000325527.5:p.Asn2767Ser | |
| ENST00000559133.5:c.3669A>G | ||
| ENST00000561429.1:n.555A>G | ||
| NM_000138.4:c.8300A>G , LRG_778t1:c.8300A>G | NP_000129.3:p.Asn2767Ser | |
| NM_000138.5:c.8300A>G MANE Select | NP_000129.3:p.Asn2767Ser |