Linked Data
ClinVar Variation Id:
376506
ClinVar RCV Id:
RCV000422450
RCV000420373
RCV000423122
RCV000430627
RCV000432728
RCV000433386
RCV000440878
RCV000444029
RCV000440118
RCV000520866
RCV001262898
RCV002225611
dbSNP Id:
rs1057519947
COSMIC:
COSM51253
PubMed:
PMID:26619011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.52212730G>A , CM000681.2:g.52212730G>A | GRCh38 |
| NC_000019.9:g.52715983G>A , CM000681.1:g.52715983G>A | GRCh37 |
| NC_000019.8:g.57407795G>A | NCBI36 |
| NG_047068.1:g.27929G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000454220.7:c.668G>A | ENSP00000391905.3:p.Arg223Gln | |
| ENST00000703395.1:c.11G>A | ENSP00000515286.1:p.Arg4Gln | |
| ENST00000703396.1:n.492G>A | ||
| ENST00000703397.1:c.11G>A | ENSP00000515287.1:p.Arg4Gln | |
| ENST00000703398.1:c.590G>A | ENSP00000515288.1:p.Arg197Gln | |
| ENST00000703421.1:n.701G>A | ||
| ENST00000703422.1:c.524G>A | ENSP00000515292.1:p.Arg175Gln | |
| ENST00000703423.1:c.11G>A | ENSP00000515293.1:p.Arg4Gln | |
| ENST00000322088.11:c.548G>A MANE Select | ENSP00000324804.6:p.Arg183Gln | |
| ENST00000322088.10:c.548G>A | ENSP00000324804.6:p.Arg183Gln | |
| ENST00000454220.6:c.668G>A | ENSP00000391905.2:p.Arg223Gln | |
| ENST00000462047.1:n.239G>A | ||
| ENST00000462990.5:c.11G>A | ENSP00000470504.1:p.Arg4Gln | |
| NM_014225.5:c.548G>A | NP_055040.2:p.Arg183Gln | |
| NR_033500.1:n.742G>A | ||
| NM_001363656.1:c.11G>A | NP_001350585.1:p.Arg4Gln | |
| NM_014225.6:c.548G>A MANE Select | NP_055040.2:p.Arg183Gln | |
| NM_001363656.2:c.11G>A | NP_001350585.1:p.Arg4Gln | |
| NR_033500.2:n.492G>A |