Linked Data
ClinVar Variation Id:
487802
ClinVar RCV Id:
RCV000577852
dbSNP Id:
rs985808078
gnomAD v2:
1-119965128-G-A
gnomAD v4:
1-119422505-G-A
COSMIC:
COSM5914659
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119422505G>A , CM000663.2:g.119422505G>A | GRCh38 |
| NC_000001.10:g.119965128G>A , CM000663.1:g.119965128G>A | GRCh37 |
| NC_000001.9:g.119766651G>A | NCBI36 |
| NG_013349.1:g.12575G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369416.4:c.1004G>A MANE Select | ENSP00000358424.3:p.Arg335Gln | |
| ENST00000369416.3:c.1004G>A | ENSP00000358424.3:p.Arg335Gln | |
| ENST00000543831.5:c.1004G>A | ENSP00000445122.1:p.Arg335Gln | |
| NM_000198.3:c.1004G>A | NP_000189.1:p.Arg335Gln | |
| NM_001166120.1:c.1004G>A | NP_001159592.1:p.Arg335Gln | |
| NM_000198.4:c.1004G>A MANE Select | NP_000189.1:p.Arg335Gln | |
| NM_001166120.2:c.1004G>A | NP_001159592.1:p.Arg335Gln |