Linked Data
ClinVar Variation Id:
681577
ClinVar RCV Id:
RCV000841515
dbSNP Id:
rs1183722632
gnomAD v4:
22-50720761-C-A
MyVariant Identifiers:
chr22:g.51159189C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50720761C>A , CM000684.2:g.50720761C>A | GRCh38 |
| NC_000022.10:g.51159189C>A , CM000684.1:g.51159189C>A | GRCh37 |
| NC_000022.9:g.49506055C>A | NCBI36 |
| NG_008607.2:g.51407C>A | |
| NG_070230.1:g.56545C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262795.7:c.2529C>A | ENSP00000489147.2:p.Pro843= | |
| ENST00000414786.7:n.3113C>A | ||
| ENST00000445220.7:c.1581C>A | ENSP00000489407.2:p.Pro527= | |
| ENST00000664402.2:c.1071C>A | ENSP00000499475.1:p.Pro357= | |
| ENST00000673971.2:c.*1527C>A | ENSP00000501192.1:n.*1527C>A | |
| ENST00000445220.6:c.1581C>A | ENSP00000489407.2:p.Pro527= | |
| ENST00000262795.6:c.2529C>A | ENSP00000489147.2:p.Pro843= | |
| ENST00000664402.1:c.1071C>A | ENSP00000499475.1:p.Pro357= | |
| ENST00000673971.1:c.*1527C>A | ENSP00000501192.1:n.*1527C>A | |
| ENST00000262795.5:c.2925C>A | ENSP00000489147.1:p.Pro975= | |
| ENST00000414786.6:n.3113C>A | ||
| ENST00000445220.5:c.2907C>A | ENSP00000489407.1:p.Pro969= |