Linked Data
ClinVar Variation Id:
790002
ClinVar RCV Id:
RCV000972722
dbSNP Id:
rs35275884
ExAC:
4:75250455 G / A
gnomAD v2:
4-75250455-G-A
gnomAD v3:
4-74384738-G-A
gnomAD v4:
4-74384738-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.74384738G>A , CM000666.2:g.74384738G>A | GRCh38 |
| NC_000004.11:g.75250455G>A , CM000666.1:g.75250455G>A | GRCh37 |
| NC_000004.10:g.75469319G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244869.3:c.440G>A MANE Select | ENSP00000244869.2:p.Arg147Gln | |
| ENST00000244869.2:c.440G>A | ENSP00000244869.2:p.Arg147Gln | |
| ENST00000503689.1:n.384G>A | ||
| NM_001432.2:c.440G>A | NP_001423.1:p.Arg147Gln | |
| NM_001432.3:c.440G>A MANE Select | NP_001423.1:p.Arg147Gln |