Linked Data
ClinVar Variation Id:
1163573
ClinVar RCV Id:
RCV001508764
dbSNP Id:
rs2141210059
gnomAD v4:
15-48411322-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48411322C>T , CM000677.2:g.48411322C>T | GRCh38 |
| NC_000015.9:g.48703519C>T , CM000677.1:g.48703519C>T | GRCh37 |
| NC_000015.8:g.46490811C>T | NCBI36 |
| NG_008805.2:g.239467G>A , LRG_778:g.239467G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1092G>A | ENSP00000453958.2:n.*1092G>A | |
| ENST00000674301.2:c.*1797G>A | ENSP00000501333.2:n.*1797G>A | |
| ENST00000682158.1:n.1665G>A | ||
| ENST00000682170.1:n.2465G>A | ||
| ENST00000682767.1:n.1581G>A | ||
| ENST00000316623.10:c.8284G>A MANE Select | ENSP00000325527.5:p.Ala2762Thr | |
| ENST00000674301.1:c.3450G>A | ENSP00000501333.1:n.3450G>A | |
| ENST00000316623.9:c.8284G>A | ENSP00000325527.5:p.Ala2762Thr | |
| ENST00000559133.5:c.3653G>A | ||
| ENST00000561429.1:n.539G>A | ||
| NM_000138.4:c.8284G>A , LRG_778t1:c.8284G>A | NP_000129.3:p.Ala2762Thr | |
| NM_000138.5:c.8284G>A MANE Select | NP_000129.3:p.Ala2762Thr |