Linked Data
ClinVar Variation Id:
2505011
dbSNP Id:
rs754878991
ExAC:
1:160109760 G / A
gnomAD v2:
1-160109760-G-A
gnomAD v4:
1-160139970-G-A
COSMIC:
COSM1688945
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160139970G>A , CM000663.2:g.160139970G>A | GRCh38 |
| NC_000001.10:g.160109760G>A , CM000663.1:g.160109760G>A | GRCh37 |
| NC_000001.9:g.158376384G>A | NCBI36 |
| NG_008014.1:g.29213G>A , LRG_6:g.29213G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361216.8:c.3020G>A MANE Select | ENSP00000354490.3:p.Arg1007Gln | |
| ENST00000361216.7:c.3020G>A | ENSP00000354490.3:p.Arg1007Gln | |
| ENST00000392233.7:c.2987G>A | ENSP00000376066.3:p.Arg996Gln | |
| ENST00000447527.1:c.2101G>A | ||
| ENST00000459972.1:n.12G>A | ||
| ENST00000463989.1:n.356G>A | ||
| NM_000702.3:c.3020G>A | NP_000693.1:p.Arg1007Gln | |
| NM_000702.4:c.3020G>A MANE Select | NP_000693.1:p.Arg1007Gln |