Linked Data
ClinVar Variation Id:
682556
ClinVar RCV Id:
RCV000842670
dbSNP Id:
rs200365897
ExAC:
22:19163776 G / A
gnomAD v2:
22-19163776-G-A
gnomAD v3:
22-19176263-G-A
gnomAD v4:
22-19176263-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19176263G>A , CM000684.2:g.19176263G>A | GRCh38 |
| NC_000022.10:g.19163776G>A , CM000684.1:g.19163776G>A | GRCh37 |
| NC_000022.9:g.17543776G>A | NCBI36 |
| NG_033863.1:g.7601C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215882.10:c.822-19C>T MANE Select | ENSP00000215882.5:n.822-19C>T | |
| ENST00000215882.9:c.822-19C>T | ENSP00000215882.5:n.822-19C>T | |
| ENST00000451283.5:c.513-19C>T | ENSP00000401480.1:n.513-19C>T | |
| ENST00000470922.5:n.964-19C>T | ||
| NM_001256534.1:c.843-19C>T | NP_001243463.1:n.843-19C>T | |
| NM_001287387.1:c.513-19C>T | NP_001274316.1:n.513-19C>T | |
| NM_005984.4:c.822-19C>T | NP_005975.1:n.822-19C>T | |
| NR_046298.2:n.873-19C>T | ||
| NM_005984.5:c.822-19C>T MANE Select | NP_005975.1:n.822-19C>T | |
| NM_001256534.2:c.843-19C>T | NP_001243463.1:n.843-19C>T | |
| NM_001287387.2:c.513-19C>T | NP_001274316.1:n.513-19C>T | |
| NR_046298.3:n.746-19C>T |