Linked Data
dbSNP Id:
rs752014133
ExAC:
22:51159603 C / G
gnomAD v2:
22-51159603-C-G
gnomAD v3:
22-50721175-C-G
gnomAD v4:
22-50721175-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50721175C>G , CM000684.2:g.50721175C>G | GRCh38 |
| NC_000022.10:g.51159603C>G , CM000684.1:g.51159603C>G | GRCh37 |
| NC_000022.9:g.49506469C>G | NCBI36 |
| NG_008607.2:g.51821C>G | |
| NG_070230.1:g.56959C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262795.7:c.2943C>G | ENSP00000489147.2:p.Ala981= | |
| ENST00000414786.7:n.3527C>G | ||
| ENST00000445220.7:c.1995C>G | ENSP00000489407.2:p.Ala665= | |
| ENST00000664402.2:c.1485C>G | ENSP00000499475.1:p.Ala495= | |
| ENST00000673971.2:c.*1941C>G | ENSP00000501192.1:n.*1941C>G | |
| ENST00000445220.6:c.1995C>G | ENSP00000489407.2:p.Ala665= | |
| ENST00000262795.6:c.2943C>G | ENSP00000489147.2:p.Ala981= | |
| ENST00000664402.1:c.1485C>G | ENSP00000499475.1:p.Ala495= | |
| ENST00000673971.1:c.*1941C>G | ENSP00000501192.1:n.*1941C>G | |
| ENST00000262795.5:c.3339C>G | ENSP00000489147.1:p.Ala1113= | |
| ENST00000414786.6:n.3527C>G | ||
| ENST00000445220.5:c.3321C>G | ENSP00000489407.1:p.Ala1107= |