Linked Data
ClinVar Variation Id:
1479002
dbSNP Id:
rs752252343
ExAC:
10:99358610 G / A
gnomAD v2:
10-99358610-G-A
gnomAD v3:
10-97598853-G-A
gnomAD v4:
10-97598853-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.97598853G>A , CM000672.2:g.97598853G>A | GRCh38 |
| NC_000010.10:g.99358610G>A , CM000672.1:g.99358610G>A | GRCh37 |
| NC_000010.9:g.99348600G>A | NCBI36 |
| NG_027922.1:g.19509G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370646.9:c.290G>A MANE Select | ENSP00000359680.4:p.Arg97His | |
| ENST00000370646.8:c.290G>A | ENSP00000359680.4:p.Arg97His | |
| ENST00000370647.8:c.212-3004G>A | ENSP00000359681.4:n.212-3004G>A | |
| ENST00000370649.3:c.212-3004G>A | ENSP00000359683.3:n.212-3004G>A | |
| ENST00000465608.1:n.671G>A | ||
| NM_001134670.1:c.212-3004G>A | NP_001128142.1:n.212-3004G>A | |
| NM_138413.3:c.290G>A | NP_612422.2:p.Arg97His | |
| NM_138413.4:c.290G>A MANE Select | NP_612422.2:p.Arg97His | |
| NM_001134670.2:c.212-3004G>A | NP_001128142.1:n.212-3004G>A |