Linked Data
ClinVar Variation Id:
812775
ClinVar RCV Id:
RCV001003605
dbSNP Id:
rs1592913789
gnomAD v3:
12-121839954-A-G
gnomAD v4:
12-121839954-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121839954A>G , CM000674.2:g.121839954A>G | GRCh38 |
| NC_000012.11:g.122277860A>G , CM000674.1:g.122277860A>G | GRCh37 |
| NC_000012.10:g.120762243A>G | NCBI36 |
| NG_016461.1:g.53658T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289004.8:c.1049T>C MANE Select | ENSP00000289004.4:p.Val350Ala | |
| ENST00000543163.5:c.932T>C | ENSP00000441677.1:p.Val311Ala | |
| NM_001171993.1:c.932T>C | NP_001165464.1:p.Val311Ala | |
| NM_002150.2:c.1049T>C | NP_002141.1:p.Val350Ala | |
| NM_002150.3:c.1049T>C MANE Select | NP_002141.2:p.Val350Ala | |
| NM_001171993.2:c.932T>C | NP_001165464.1:p.Val311Ala |