Linked Data
ClinVar Variation Id:
410306
dbSNP Id:
rs149610399
ExAC:
7:801406 G / A
gnomAD v2:
7-801406-G-A
gnomAD v3:
7-761769-G-A
gnomAD v4:
7-761769-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.761769G>A , CM000669.2:g.761769G>A | GRCh38 |
| NC_000007.13:g.801406G>A , CM000669.1:g.801406G>A | GRCh37 |
| NC_000007.12:g.767932G>A | NCBI36 |
| NG_033137.1:g.40069G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297440.11:c.1487G>A MANE Select | ENSP00000297440.6:p.Arg496His | |
| ENST00000297440.10:c.1487G>A | ENSP00000297440.6:p.Arg496His | |
| ENST00000440747.5:c.891G>A | ||
| NM_017802.3:c.1487G>A | NP_060272.3:p.Arg496His | |
| NR_075098.1:n.1445G>A | ||
| XM_024446813.1:c.1487G>A | XP_024302581.1:p.Arg496His | |
| XM_024446814.1:c.881G>A | XP_024302582.1:p.Arg294His | |
| NM_017802.4:c.1487G>A MANE Select | NP_060272.3:p.Arg496His | |
| NR_075098.2:n.1447G>A |