Linked Data
ClinVar Variation Id:
208185
ClinVar RCV Id:
RCV000190381
dbSNP Id:
rs777202473
ExAC:
10:94835623 A / G
gnomAD v2:
10-94835623-A-G
gnomAD v3:
10-93075866-A-G
gnomAD v4:
10-93075866-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.93075866A>G , CM000672.2:g.93075866A>G | GRCh38 |
| NC_000010.10:g.94835623A>G , CM000672.1:g.94835623A>G | GRCh37 |
| NC_000010.9:g.94825613A>G | NCBI36 |
| NG_008067.1:g.7392A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224356.5:c.905A>G MANE Select | ENSP00000224356.4:p.His302Arg | |
| ENST00000224356.4:c.905A>G | ENSP00000224356.4:p.His302Arg | |
| ENST00000371531.5:c.698A>G | ENSP00000360586.1:p.His233Arg | |
| ENST00000623162.1:n.238A>G | ||
| ENST00000624589.3:c.678A>G | ENSP00000485126.1:p.Thr226= | |
| NM_000783.3:c.905A>G | NP_000774.2:p.His302Arg | |
| NM_057157.2:c.698A>G | NP_476498.1:p.His233Arg | |
| NM_000783.4:c.905A>G MANE Select | NP_000774.2:p.His302Arg |