Linked Data
ClinVar Variation Id:
719377
ClinVar RCV Id:
RCV000892503
dbSNP Id:
rs74153215
ExAC:
1:248128725 G / A
gnomAD v2:
1-248128725-G-A
gnomAD v3:
1-247965423-G-A
gnomAD v4:
1-247965423-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.247965423G>A , CM000663.2:g.247965423G>A | GRCh38 |
| NC_000001.10:g.248128725G>A , CM000663.1:g.248128725G>A | GRCh37 |
| NC_000001.9:g.246195348G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366480.5:c.47G>A (OR2AK2) MANE Select | ENSP00000355436.4:p.Gly16Asp | |
| ENST00000366478.2:c.-144+28039G>A (OR2L13) | ENSP00000355434.2:n.-144+28039G>A | |
| ENST00000366480.3:c.92G>A (OR2AK2) | ENSP00000355436.3:p.Gly31Asp | |
| NM_001004491.1:c.92G>A (OR2AK2) | NP_001004491.1:p.Gly31Asp | |
| NM_001304535.1:c.-19+28039G>A (OR2L13) | NP_001291464.1:n.-19+28039G>A | |
| NM_175911.3:c.-144+28039G>A (OR2L13) | NP_787107.1:n.-144+28039G>A | |
| NM_001304535.3:c.-19+28039G>A (OR2L13) | NP_001291464.1:n.-19+28039G>A | |
| NM_175911.5:c.-144+28039G>A (OR2L13) | NP_787107.1:n.-144+28039G>A | |
| NM_001004491.2:c.47G>A (OR2AK2) MANE Select | NP_001004491.2:p.Gly16Asp |