Linked Data
dbSNP Id:
rs780899742
ExAC:
22:51160362 C / T
gnomAD v2:
22-51160362-C-T
gnomAD v4:
22-50721934-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50721934C>T , CM000684.2:g.50721934C>T | GRCh38 |
| NC_000022.10:g.51160362C>T , CM000684.1:g.51160362C>T | GRCh37 |
| NC_000022.9:g.49507228C>T | NCBI36 |
| NG_008607.2:g.52580C>T | |
| NG_070230.1:g.57718C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262795.7:c.3702C>T | ENSP00000489147.2:p.Asp1234= | |
| ENST00000414786.7:n.4286C>T | ||
| ENST00000445220.7:c.2754C>T | ENSP00000489407.2:p.Asp918= | |
| ENST00000664402.2:c.2244C>T | ENSP00000499475.1:p.Asp748= | |
| ENST00000673971.2:c.*2700C>T | ENSP00000501192.1:n.*2700C>T | |
| ENST00000445220.6:c.2754C>T | ENSP00000489407.2:p.Asp918= | |
| ENST00000262795.6:c.3702C>T | ENSP00000489147.2:p.Asp1234= | |
| ENST00000664402.1:c.2244C>T | ENSP00000499475.1:p.Asp748= | |
| ENST00000673971.1:c.*2700C>T | ENSP00000501192.1:n.*2700C>T | |
| ENST00000262795.5:c.4098C>T | ENSP00000489147.1:p.Asp1366= | |
| ENST00000414786.6:n.4286C>T | ||
| ENST00000445220.5:c.4080C>T | ENSP00000489407.1:p.Asp1360= |