Linked Data
ClinVar Variation Id:
40012
ClinVar RCV Id:
RCV000033139
dbSNP Id:
rs3749977
ExAC:
6:29080344 G / A
gnomAD v2:
6-29080344-G-A
gnomAD v3:
6-29112567-G-A
gnomAD v4:
6-29112567-G-A
PubMed:
PMID:22714804
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29112567G>A , CM000668.2:g.29112567G>A | GRCh38 |
| NC_000006.11:g.29080344G>A , CM000668.1:g.29080344G>A | GRCh37 |
| NC_000006.10:g.29188323G>A | NCBI36 |
| NG_033252.1:g.5758G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377169.2:c.677G>A | ENSP00000366374.1:p.Arg226Gln | |
| ENST00000641151.2:c.677G>A MANE Select | ENSP00000492961.1:p.Arg226Gln | |
| ENST00000641960.1:c.677G>A | ENSP00000493439.1:p.Arg226Gln | |
| ENST00000377169.1:c.677G>A | ENSP00000366374.1:p.Arg226Gln | |
| NM_001005216.3:c.677G>A | NP_001005216.2:p.Arg226Gln | |
| XR_926668.1:n.78-1633G>A | ||
| XR_926668.2:n.78-1633G>A | ||
| NM_001005216.4:c.677G>A MANE Select | NP_001005216.2:p.Arg226Gln |