Linked Data
ClinVar Variation Id:
729262
ClinVar RCV Id:
RCV000903877
dbSNP Id:
rs782586427
ExAC:
22:19163718 G / A
gnomAD v2:
22-19163718-G-A
gnomAD v4:
22-19176205-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19176205G>A , CM000684.2:g.19176205G>A | GRCh38 |
| NC_000022.10:g.19163718G>A , CM000684.1:g.19163718G>A | GRCh37 |
| NC_000022.9:g.17543718G>A | NCBI36 |
| NG_033863.1:g.7659C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215882.10:c.861C>T MANE Select | ENSP00000215882.5:p.Cys287= | |
| ENST00000215882.9:c.861C>T | ENSP00000215882.5:p.Cys287= | |
| ENST00000451283.5:c.552C>T | ENSP00000401480.1:p.Cys184= | |
| ENST00000470922.5:n.1003C>T | ||
| NM_001256534.1:c.882C>T | NP_001243463.1:p.Cys294= | |
| NM_001287387.1:c.552C>T | NP_001274316.1:p.Cys184= | |
| NM_005984.4:c.861C>T | NP_005975.1:p.Cys287= | |
| NR_046298.2:n.912C>T | ||
| NM_005984.5:c.861C>T MANE Select | NP_005975.1:p.Cys287= | |
| NM_001256534.2:c.882C>T | NP_001243463.1:p.Cys294= | |
| NM_001287387.2:c.552C>T | NP_001274316.1:p.Cys184= | |
| NR_046298.3:n.785C>T |