Linked Data
ClinVar Variation Id:
2944997
ClinVar RCV Id:
RCV003800651
dbSNP Id:
rs763453989
ExAC:
22:24108360 A / G
gnomAD v2:
22-24108360-A-G
gnomAD v3:
22-23766173-A-G
gnomAD v4:
22-23766173-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23766173A>G , CM000684.2:g.23766173A>G | GRCh38 |
| NC_000022.10:g.24108360A>G , CM000684.1:g.24108360A>G | GRCh37 |
| NC_000022.9:g.22438360A>G | NCBI36 |
| NG_034223.1:g.6800T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000484558.3:c.364T>C MANE Select | ENSP00000418428.3:p.Cys122Arg | |
| ENST00000401675.7:c.385T>C | ENSP00000384973.3:p.Cys129Arg | |
| ENST00000484558.2:c.364T>C | ENSP00000418428.2:p.Cys122Arg | |
| ENST00000517886.1:c.*11T>C | ENSP00000429976.1:n.*11T>C | |
| ENST00000520222.1:c.144T>C | ENSP00000430042.1:p.Cys48= | |
| ENST00000523865.1:n.292T>C | ||
| NM_001301339.1:c.385T>C | NP_001288268.1:p.Cys129Arg | |
| NM_213720.2:c.364T>C | NP_998885.1:p.Cys122Arg | |
| NR_125755.1:n.409T>C | ||
| NR_125756.1:n.242T>C | ||
| NM_001301339.2:c.385T>C | NP_001288268.1:p.Cys129Arg | |
| NM_213720.3:c.364T>C MANE Select | NP_998885.1:p.Cys122Arg | |
| NR_125755.2:n.409T>C | ||
| NR_125756.2:n.242T>C |