Linked Data
dbSNP Id:
rs781235919
gnomAD v4:
22-50721697-C-G
MyVariant Identifiers:
chr22:g.51160125C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50721697C>G , CM000684.2:g.50721697C>G | GRCh38 |
| NC_000022.10:g.51160125C>G , CM000684.1:g.51160125C>G | GRCh37 |
| NC_000022.9:g.49506991C>G | NCBI36 |
| NG_008607.2:g.52343C>G | |
| NG_070230.1:g.57481C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262795.7:c.3465C>G | ENSP00000489147.2:p.Ala1155= | |
| ENST00000414786.7:n.4049C>G | ||
| ENST00000445220.7:c.2517C>G | ENSP00000489407.2:p.Ala839= | |
| ENST00000664402.2:c.2007C>G | ENSP00000499475.1:p.Ala669= | |
| ENST00000673971.2:c.*2463C>G | ENSP00000501192.1:n.*2463C>G | |
| ENST00000445220.6:c.2517C>G | ENSP00000489407.2:p.Ala839= | |
| ENST00000262795.6:c.3465C>G | ENSP00000489147.2:p.Ala1155= | |
| ENST00000664402.1:c.2007C>G | ENSP00000499475.1:p.Ala669= | |
| ENST00000673971.1:c.*2463C>G | ENSP00000501192.1:n.*2463C>G | |
| ENST00000262795.5:c.3861C>G | ENSP00000489147.1:p.Ala1287= | |
| ENST00000414786.6:n.4049C>G | ||
| ENST00000445220.5:c.3843C>G | ENSP00000489407.1:p.Ala1281= |