Linked Data
ClinVar Variation Id:
204378
ClinVar RCV Id:
RCV000209016
dbSNP Id:
rs773048903
ExAC:
19:41920054 G / A
gnomAD v2:
19-41920054-G-A
gnomAD v4:
19-41414149-G-A
COSMIC:
COSM3227080
PubMed:
PMID:26257134
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41414149G>A , CM000681.2:g.41414149G>A | GRCh38 |
| NC_000019.9:g.41920054G>A , CM000681.1:g.41920054G>A | GRCh37 |
| NC_000019.8:g.46611894G>A | NCBI36 |
| NG_013004.1:g.21361G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.476G>A MANE Select | ENSP00000269980.2:p.Arg159Gln | |
| ENST00000269980.6:c.476G>A | ENSP00000269980.2:p.Arg159Gln | |
| ENST00000457836.6:c.410G>A | ENSP00000416000.2:p.Arg137Gln | |
| ENST00000538423.5:n.602G>A | ||
| ENST00000540732.3:c.578G>A | ENSP00000443246.1:p.Arg193Gln | |
| ENST00000541315.1:c.283G>A | ||
| ENST00000542943.5:c.389G>A | ENSP00000440345.1:p.Arg130Gln | |
| ENST00000595085.5:c.476G>A | ENSP00000471150.2:p.Arg159Gln | |
| NM_000709.3:c.476G>A | NP_000700.1:p.Arg159Gln | |
| NM_001164783.1:c.476G>A | NP_001158255.1:p.Arg159Gln | |
| NM_000709.4:c.476G>A MANE Select | NP_000700.1:p.Arg159Gln | |
| NM_001164783.2:c.476G>A | NP_001158255.1:p.Arg159Gln |