Linked Data
ClinVar Variation Id:
1643982
ClinVar RCV Id:
RCV002138643
dbSNP Id:
rs143953666
ExAC:
22:38129438 C / T
gnomAD v2:
22-38129438-C-T
gnomAD v3:
22-37733431-C-T
gnomAD v4:
22-37733431-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37733431C>T , CM000684.2:g.37733431C>T | GRCh38 |
| NC_000022.10:g.38129438C>T , CM000684.1:g.38129438C>T | GRCh37 |
| NC_000022.9:g.36459384C>T | NCBI36 |
| NG_012857.1:g.41444C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644935.1:c.4062+19C>T MANE Select | ENSP00000496394.1:n.4062+19C>T | |
| ENST00000344404.10:c.*3545+19C>T | ENSP00000340312.6:n.*3545+19C>T | |
| ENST00000406386.7:c.4062+19C>T | ENSP00000384312.3:n.4062+19C>T | |
| NM_001039141.2:c.4062+19C>T | NP_001034230.1:n.4062+19C>T | |
| XM_011530646.1:c.512-3072G>A | XP_011528948.1:n.512-3072G>A | |
| NM_001039141.3:c.4062+19C>T MANE Select | NP_001034230.1:n.4062+19C>T |