Linked Data
ClinVar Variation Id:
926132
ClinVar RCV Id:
RCV001188524
dbSNP Id:
rs2085716374
gnomAD v4:
19-55154767-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154767C>T , CM000681.2:g.55154767C>T | GRCh38 |
| NC_000019.9:g.55666135C>T , CM000681.1:g.55666135C>T | GRCh37 |
| NC_000019.8:g.60357947C>T | NCBI36 |
| NG_007866.2:g.7966G>A , LRG_432:g.7966G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.346G>A MANE Select | ENSP00000341838.5:p.Ala116Thr | |
| ENST00000665070.1:c.346G>A | ENSP00000499482.1:p.Ala116Thr | |
| ENST00000344887.9:c.346G>A | ENSP00000341838.5:p.Ala116Thr | |
| ENST00000585806.5:n.345G>A | ||
| ENST00000586669.5:n.354G>A | ||
| ENST00000587176.5:n.530G>A | ||
| ENST00000587871.1:c.965G>A | ||
| ENST00000588882.1:c.271G>A | ENSP00000466729.1:p.Ala91Thr | |
| ENST00000590463.1:n.518G>A | ||
| NM_000363.4:c.346G>A , LRG_432t1:c.346G>A | NP_000354.4:p.Ala116Thr | |
| NM_000363.5:c.346G>A MANE Select | NP_000354.4:p.Ala116Thr |