Linked Data
dbSNP Id:
rs946786142
gnomAD v3:
12-71994497-C-G
gnomAD v4:
12-71994497-C-G
COSMIC:
COSM4575725
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.71994497C>G , CM000674.2:g.71994497C>G | GRCh38 |
| NC_000012.11:g.72388277C>G , CM000674.1:g.72388277C>G | GRCh37 |
| NC_000012.10:g.70674544C>G | NCBI36 |
| NG_008279.1:g.60652C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333850.4:c.1000C>G MANE Select | ENSP00000329093.3:p.Gln334Glu | |
| ENST00000333850.3:c.1000C>G | ENSP00000329093.3:p.Gln334Glu | |
| NM_173353.3:c.1000C>G | NP_775489.2:p.Gln334Glu | |
| XM_011537899.1:c.406C>G | XP_011536201.1:p.Gln136Glu | |
| NM_173353.4:c.1000C>G MANE Select | NP_775489.2:p.Gln334Glu |