Linked Data
ClinVar Variation Id:
1321026
ClinVar RCV Id:
RCV001777005
dbSNP Id:
rs371743889
ExAC:
22:51160635 C / T
gnomAD v2:
22-51160635-C-T
gnomAD v3:
22-50722207-C-T
gnomAD v4:
22-50722207-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50722207C>T , CM000684.2:g.50722207C>T | GRCh38 |
| NC_000022.10:g.51160635C>T , CM000684.1:g.51160635C>T | GRCh37 |
| NC_000022.9:g.49507501C>T | NCBI36 |
| NG_008607.2:g.52853C>T | |
| NG_070230.1:g.57991C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262795.7:c.3975C>T | ENSP00000489147.2:p.Ala1325= | |
| ENST00000414786.7:n.4559C>T | ||
| ENST00000445220.7:c.3027C>T | ENSP00000489407.2:p.Ala1009= | |
| ENST00000664402.2:c.2517C>T | ENSP00000499475.1:p.Ala839= | |
| ENST00000673971.2:c.*2973C>T | ENSP00000501192.1:n.*2973C>T | |
| ENST00000445220.6:c.3027C>T | ENSP00000489407.2:p.Ala1009= | |
| ENST00000262795.6:c.3975C>T | ENSP00000489147.2:p.Ala1325= | |
| ENST00000664402.1:c.2517C>T | ENSP00000499475.1:p.Ala839= | |
| ENST00000673971.1:c.*2973C>T | ENSP00000501192.1:n.*2973C>T | |
| ENST00000262795.5:c.4371C>T | ENSP00000489147.1:p.Ala1457= | |
| ENST00000414786.6:n.4559C>T | ||
| ENST00000445220.5:c.4353C>T | ENSP00000489407.1:p.Ala1451= |