Linked Data
ClinVar Variation Id:
3157060
ClinVar RCV Id:
RCV004446903
dbSNP Id:
rs746384572
ExAC:
22:20230091 G / A
gnomAD v2:
22-20230091-G-A
gnomAD v3:
22-20242568-G-A
gnomAD v4:
22-20242568-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20242568G>A , CM000684.2:g.20242568G>A | GRCh38 |
| NC_000022.10:g.20230091G>A , CM000684.1:g.20230091G>A | GRCh37 |
| NC_000022.9:g.18610091G>A | NCBI36 |
| NG_012176.1:g.30726C>T | |
| NG_012176.2:g.30726C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000043402.8:c.565C>T MANE Select | ENSP00000043402.7:p.Arg189Cys | |
| ENST00000043402.7:c.565C>T | ENSP00000043402.7:p.Arg189Cys | |
| ENST00000416372.5:c.624C>T | ||
| ENST00000425986.1:c.822C>T | ||
| NM_023004.5:c.565C>T | NP_075380.1:p.Arg189Cys | |
| NM_023004.6:c.565C>T MANE Select | NP_075380.1:p.Arg189Cys |