Linked Data
ClinVar Variation Id:
435324
dbSNP Id:
rs962041031
gnomAD v3:
6-121447290-G-A
gnomAD v4:
6-121447290-G-A
COSMIC:
COSM461914
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.121447290G>A , CM000668.2:g.121447290G>A | GRCh38 |
| NC_000006.11:g.121768436G>A , CM000668.1:g.121768436G>A | GRCh37 |
| NC_000006.10:g.121810135G>A | NCBI36 |
| NG_008308.1:g.16692G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282561.4:c.443G>A MANE Select | ENSP00000282561.3:p.Arg148Gln | |
| ENST00000647564.1:c.443G>A | ENSP00000497565.1:p.Arg148Gln | |
| ENST00000649003.1:c.443G>A | ENSP00000497283.1:p.Arg148Gln | |
| ENST00000650427.1:c.443G>A | ENSP00000497367.1:p.Arg148Gln | |
| ENST00000282561.3:c.443G>A | ENSP00000282561.3:p.Arg148Gln | |
| NM_000165.4:c.443G>A | NP_000156.1:p.Arg148Gln | |
| NM_000165.5:c.443G>A MANE Select | NP_000156.1:p.Arg148Gln |