Linked Data
ClinVar Variation Id:
692254
ClinVar RCV Id:
RCV000853599
dbSNP Id:
rs1196937368
gnomAD v2:
21-35743071-C-G
gnomAD v4:
21-34370772-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34370772C>G , CM000683.2:g.34370772C>G | GRCh38 |
| NC_000021.8:g.35743071C>G , CM000683.1:g.35743071C>G | GRCh37 |
| NC_000021.7:g.34664941C>G | NCBI36 |
| NG_008804.1:g.11749C>G , LRG_291:g.11749C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290310.4:c.294C>G MANE Select | ENSP00000290310.2:p.Ser98Arg | |
| ENST00000290310.3:c.294C>G | ENSP00000290310.2:p.Ser98Arg | |
| NM_172201.1:c.294C>G , LRG_291t1:c.294C>G | NP_751951.1:p.Ser98Arg | |
| XR_937683.1:n.549G>C | ||
| XR_937684.1:n.549G>C | ||
| XR_001755012.2:n.670G>C | ||
| XR_001755013.2:n.549G>C | ||
| XR_937683.2:n.549G>C | ||
| NM_172201.2:c.294C>G MANE Select | NP_751951.1:p.Ser98Arg |