Linked Data
ClinVar Variation Id:
372306
dbSNP Id:
rs373697663
ExAC:
7:65551784 G / A
gnomAD v2:
7-65551784-G-A
gnomAD v3:
7-66086797-G-A
gnomAD v4:
7-66086797-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66086797G>A , CM000669.2:g.66086797G>A | GRCh38 |
| NC_000007.13:g.65551784G>A , CM000669.1:g.65551784G>A | GRCh37 |
| NC_000007.12:g.65189219G>A | NCBI36 |
| NG_009288.1:g.16009G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304874.14:c.578G>A MANE Select | ENSP00000307188.9:p.Arg193Gln | |
| ENST00000362000.10:c.383G>A | ENSP00000354710.6:p.Arg128Gln | |
| ENST00000380839.9:c.524+135G>A | ENSP00000370219.4:n.524+135G>A | |
| ENST00000395331.4:c.578G>A | ENSP00000378740.3:p.Arg193Gln | |
| ENST00000395332.8:c.578G>A | ENSP00000378741.3:p.Arg193Gln | |
| ENST00000671817.1:c.524+135G>A | ENSP00000500462.1:n.524+135G>A | |
| ENST00000672498.1:c.447-932G>A | ENSP00000500227.1:n.447-932G>A | |
| ENST00000672586.1:n.483G>A | ||
| ENST00000672676.1:n.748G>A | ||
| ENST00000673149.1:n.390G>A | ||
| ENST00000673350.1:n.826G>A | ||
| ENST00000673518.1:c.524+135G>A | ENSP00000499889.1:n.524+135G>A | |
| ENST00000673594.1:n.427G>A | ||
| ENST00000304874.13:c.578G>A | ENSP00000307188.9:p.Arg193Gln | |
| ENST00000362000.9:c.383G>A | ENSP00000354710.5:p.Arg128Gln | |
| ENST00000380839.8:c.524+135G>A | ENSP00000370219.4:n.524+135G>A | |
| ENST00000395331.3:c.578G>A | ENSP00000378740.3:p.Arg193Gln | |
| ENST00000395332.7:c.578G>A | ENSP00000378741.3:p.Arg193Gln | |
| ENST00000487982.5:n.644G>A | ||
| NM_000048.3:c.578G>A | NP_000039.2:p.Arg193Gln | |
| NM_001024943.1:c.578G>A | NP_001020114.1:p.Arg193Gln | |
| NM_001024944.1:c.578G>A | NP_001020115.1:p.Arg193Gln | |
| NM_001024946.1:c.524+135G>A | NP_001020117.1:n.524+135G>A | |
| NM_000048.4:c.578G>A MANE Select | NP_000039.2:p.Arg193Gln | |
| NM_001024943.2:c.578G>A | NP_001020114.1:p.Arg193Gln | |
| NM_001024944.2:c.578G>A | NP_001020115.1:p.Arg193Gln | |
| NM_001024946.2:c.524+135G>A | NP_001020117.1:n.524+135G>A |