Linked Data
ClinVar Variation Id:
2162761
ClinVar RCV Id:
RCV003091439
dbSNP Id:
rs369420107
ExAC:
1:230778394 G / A
gnomAD v2:
1-230778394-G-A
gnomAD v3:
1-230642648-G-A
gnomAD v4:
1-230642648-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.230642648G>A , CM000663.2:g.230642648G>A | GRCh38 |
| NC_000001.10:g.230778394G>A , CM000663.1:g.230778394G>A | GRCh37 |
| NC_000001.9:g.228845017G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366669.9:c.42G>A MANE Select | ENSP00000355629.4:p.Thr14= | |
| ENST00000366668.7:c.42G>A | ENSP00000355628.3:p.Thr14= | |
| ENST00000366669.8:c.42G>A | ENSP00000355629.4:p.Thr14= | |
| ENST00000468893.6:c.42G>A | ENSP00000476305.1:p.Thr14= | |
| ENST00000473671.1:n.128G>A | ||
| ENST00000494371.5:n.160G>A | ||
| NM_001145036.1:c.42G>A | NP_001138508.1:p.Thr14= | |
| NM_007357.2:c.42G>A | NP_031383.1:p.Thr14= | |
| NM_007357.3:c.42G>A MANE Select | NP_031383.1:p.Thr14= | |
| NM_001145036.2:c.42G>A | NP_001138508.1:p.Thr14= |