Linked Data
ClinVar Variation Id:
2138440
ClinVar RCV Id:
RCV003041412
dbSNP Id:
rs754586981
ExAC:
22:32500779 C / T
gnomAD v2:
22-32500779-C-T
gnomAD v4:
22-32104792-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32104792C>T , CM000684.2:g.32104792C>T | GRCh38 |
| NC_000022.10:g.32500779C>T , CM000684.1:g.32500779C>T | GRCh37 |
| NC_000022.9:g.30830779C>T | NCBI36 |
| NG_017045.1:g.66761C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266088.9:c.1672C>T MANE Select | ENSP00000266088.4:p.Arg558Cys | |
| ENST00000266088.8:c.1672C>T | ENSP00000266088.4:p.Arg558Cys | |
| ENST00000543737.2:c.1291C>T | ENSP00000444898.1:p.Arg431Cys | |
| NM_000343.3:c.1672C>T | NP_000334.1:p.Arg558Cys | |
| NM_001256314.1:c.1291C>T | NP_001243243.1:p.Arg431Cys | |
| XR_938173.1:n.591+2046G>A | ||
| XR_938174.1:n.486+15063G>A | ||
| NM_000343.4:c.1672C>T MANE Select | NP_000334.1:p.Arg558Cys | |
| NM_001256314.2:c.1291C>T | NP_001243243.1:p.Arg431Cys |