Linked Data
ClinVar Variation Id:
204270
ClinVar RCV Id:
RCV000186477
dbSNP Id:
rs150702945
ExAC:
10:99358657 G / A
gnomAD v2:
10-99358657-G-A
gnomAD v4:
10-97598900-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.97598900G>A , CM000672.2:g.97598900G>A | GRCh38 |
| NC_000010.10:g.99358657G>A , CM000672.1:g.99358657G>A | GRCh37 |
| NC_000010.9:g.99348647G>A | NCBI36 |
| NG_027922.1:g.19556G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370646.9:c.337G>A MANE Select | ENSP00000359680.4:p.Glu113Lys | |
| ENST00000370646.8:c.337G>A | ENSP00000359680.4:p.Glu113Lys | |
| ENST00000370647.8:c.212-2957G>A | ENSP00000359681.4:n.212-2957G>A | |
| ENST00000370649.3:c.212-2957G>A | ENSP00000359683.3:n.212-2957G>A | |
| ENST00000465608.1:n.718G>A | ||
| NM_001134670.1:c.212-2957G>A | NP_001128142.1:n.212-2957G>A | |
| NM_138413.3:c.337G>A | NP_612422.2:p.Glu113Lys | |
| NM_138413.4:c.337G>A MANE Select | NP_612422.2:p.Glu113Lys | |
| NM_001134670.2:c.212-2957G>A | NP_001128142.1:n.212-2957G>A |