Linked Data
ClinVar Variation Id:
2794495
ClinVar RCV Id:
RCV003749216
dbSNP Id:
rs397516348
gnomAD v4:
19-55154151-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154151G>A , CM000681.2:g.55154151G>A | GRCh38 |
| NC_000019.9:g.55665519G>A , CM000681.1:g.55665519G>A | GRCh37 |
| NC_000019.8:g.60357331G>A | NCBI36 |
| NG_007866.2:g.8582C>T , LRG_432:g.8582C>T | |
| NG_011829.2:g.88C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.428C>T MANE Select | ENSP00000341838.5:p.Thr143Ile | |
| ENST00000665070.1:c.461C>T | ENSP00000499482.1:p.Thr154Ile | |
| ENST00000344887.9:c.428C>T | ENSP00000341838.5:p.Thr143Ile | |
| ENST00000585806.5:n.427C>T | ||
| ENST00000586669.5:n.436C>T | ||
| ENST00000588882.1:c.353C>T | ENSP00000466729.1:p.Thr118Ile | |
| ENST00000589864.1:n.256C>T | ||
| NM_000363.4:c.428C>T , LRG_432t1:c.428C>T | NP_000354.4:p.Thr143Ile | |
| NM_000363.5:c.428C>T MANE Select | NP_000354.4:p.Thr143Ile |