Linked Data
ClinVar Variation Id:
12920
dbSNP Id:
rs28933401
gnomAD v4:
1-160135246-G-A
COSMIC:
COSM898185
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160135246G>A , CM000663.2:g.160135246G>A | GRCh38 |
| NC_000001.10:g.160105036G>A , CM000663.1:g.160105036G>A | GRCh37 |
| NC_000001.9:g.158371660G>A | NCBI36 |
| NG_008014.1:g.24489G>A , LRG_6:g.24489G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361216.8:c.2066G>A MANE Select | ENSP00000354490.3:p.Arg689Gln | |
| ENST00000361216.7:c.2066G>A | ENSP00000354490.3:p.Arg689Gln | |
| ENST00000392233.7:c.2066G>A | ENSP00000376066.3:p.Arg689Gln | |
| ENST00000447527.1:c.1198G>A | ||
| ENST00000472488.5:n.2169G>A | ||
| NM_000702.3:c.2066G>A | NP_000693.1:p.Arg689Gln | |
| NM_000702.4:c.2066G>A MANE Select | NP_000693.1:p.Arg689Gln |