Linked Data
ClinVar Variation Id:
3200722
ClinVar RCV Id:
RCV004495605
dbSNP Id:
rs199475833
ExAC:
19:56459552 G / A
gnomAD v2:
19-56459552-G-A
gnomAD v3:
19-55948186-G-A
gnomAD v4:
19-55948186-G-A
COSMIC:
COSM2969938
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55948186G>A , CM000681.2:g.55948186G>A | GRCh38 |
| NC_000019.9:g.56459552G>A , CM000681.1:g.56459552G>A | GRCh37 |
| NC_000019.8:g.61151364G>A | NCBI36 |
| NG_051553.1:g.5355G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291971.7:c.284G>A MANE Select | ENSP00000291971.3:p.Arg95Gln | |
| ENST00000590542.1:c.284G>A | ENSP00000468121.1:p.Arg95Gln | |
| NM_001317000.1:c.284G>A | NP_001303929.1:p.Arg95Gln | |
| NM_176811.2:c.284G>A MANE Select | NP_789781.2:p.Arg95Gln |