Linked Data
ClinVar Variation Id:
2318009
ClinVar RCV Id:
RCV002902727
dbSNP Id:
rs896621508
gnomAD v2:
10-50678804-A-T
gnomAD v3:
10-49470758-A-T
gnomAD v4:
10-49470758-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49470758A>T , CM000672.2:g.49470758A>T | GRCh38 |
| NC_000010.10:g.50678804A>T , CM000672.1:g.50678804A>T | GRCh37 |
| NC_000010.9:g.50348810A>T | NCBI36 |
| NG_009442.1:g.73344T>A , LRG_465:g.73344T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.3202T>A MANE Select | ENSP00000348089.5:p.Ser1068Thr | |
| ENST00000679552.1:n.273T>A | ||
| ENST00000679871.1:n.348T>A | ||
| ENST00000679974.1:n.251T>A | ||
| ENST00000681632.1:n.4605T>A | ||
| ENST00000681659.1:c.3043T>A | ENSP00000505631.1:p.Ser1015Thr | |
| ENST00000355832.9:c.3202T>A | ENSP00000348089.5:p.Ser1068Thr | |
| ENST00000623073.3:c.*1498T>A | ENSP00000485650.1:n.*1498T>A | |
| ENST00000623115.3:c.1312T>A | ENSP00000485321.1:p.Ser438Thr | |
| ENST00000624341.3:c.1034T>A | ||
| NM_000124.3:c.3202T>A | NP_000115.1:p.Ser1068Thr | |
| XR_945953.1:n.243-807A>T | ||
| NM_001346440.1:c.3202T>A | NP_001333369.1:p.Ser1068Thr | |
| NM_000124.4:c.3202T>A MANE Select | NP_000115.1:p.Ser1068Thr | |
| NM_001346440.2:c.3202T>A | NP_001333369.1:p.Ser1068Thr |