Linked Data
ClinVar Variation Id:
848113
ClinVar RCV Id:
RCV001051801
dbSNP Id:
rs2042859661
gnomAD v4:
15-48411222-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48411222A>T , CM000677.2:g.48411222A>T | GRCh38 |
| NC_000015.9:g.48703419A>T , CM000677.1:g.48703419A>T | GRCh37 |
| NC_000015.8:g.46490711A>T | NCBI36 |
| NG_008805.2:g.239567T>A , LRG_778:g.239567T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1192T>A | ENSP00000453958.2:n.*1192T>A | |
| ENST00000674301.2:c.*1897T>A | ENSP00000501333.2:n.*1897T>A | |
| ENST00000682158.1:n.1765T>A | ||
| ENST00000682170.1:n.2565T>A | ||
| ENST00000682767.1:n.1681T>A | ||
| ENST00000316623.10:c.8384T>A MANE Select | ENSP00000325527.5:p.Ile2795Asn | |
| ENST00000674301.1:c.3550T>A | ENSP00000501333.1:n.3550T>A | |
| ENST00000316623.9:c.8384T>A | ENSP00000325527.5:p.Ile2795Asn | |
| ENST00000559133.5:c.3753T>A | ||
| ENST00000561429.1:n.639T>A | ||
| NM_000138.4:c.8384T>A , LRG_778t1:c.8384T>A | NP_000129.3:p.Ile2795Asn | |
| NM_000138.5:c.8384T>A MANE Select | NP_000129.3:p.Ile2795Asn |