Linked Data
ClinVar Variation Id:
183430
dbSNP Id:
rs761123443
ExAC:
1:116206619 G / A
gnomAD v2:
1-116206619-G-A
gnomAD v3:
1-115663998-G-A
gnomAD v4:
1-115663998-G-A
PubMed:
PMID:25068569
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115663998G>A , CM000663.2:g.115663998G>A | GRCh38 |
| NC_000001.10:g.116206619G>A , CM000663.1:g.116206619G>A | GRCh37 |
| NC_000001.9:g.116008142G>A | NCBI36 |
| NG_016548.1:g.27046G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355485.7:c.542G>A MANE Select | ENSP00000347672.2:p.Arg181Gln | |
| ENST00000310260.7:c.542G>A | ENSP00000310800.3:p.Arg181Gln | |
| ENST00000355485.6:c.542G>A | ENSP00000347672.2:p.Arg181Gln | |
| ENST00000369509.1:c.542G>A | ENSP00000358522.1:p.Arg181Gln | |
| ENST00000369510.8:c.536G>A | ENSP00000358523.3:p.Arg179Gln | |
| NM_001172411.1:c.536G>A | NP_001165882.1:p.Arg179Gln | |
| NM_001172412.1:c.542G>A | NP_001165883.1:p.Arg181Gln | |
| NM_138959.2:c.542G>A | NP_620409.1:p.Arg181Gln | |
| NM_138959.3:c.542G>A MANE Select | NP_620409.1:p.Arg181Gln | |
| NM_001172411.2:c.536G>A | NP_001165882.1:p.Arg179Gln | |
| NM_001172412.2:c.542G>A | NP_001165883.1:p.Arg181Gln |