Linked Data
ClinVar Variation Id:
1728327
ClinVar RCV Id:
RCV002322530
dbSNP Id:
rs375916606
ExAC:
22:51159423 C / T
gnomAD v2:
22-51159423-C-T
gnomAD v3:
22-50720995-C-T
gnomAD v4:
22-50720995-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50720995C>T , CM000684.2:g.50720995C>T | GRCh38 |
| NC_000022.10:g.51159423C>T , CM000684.1:g.51159423C>T | GRCh37 |
| NC_000022.9:g.49506289C>T | NCBI36 |
| NG_008607.2:g.51641C>T | |
| NG_070230.1:g.56779C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262795.7:c.2763C>T | ENSP00000489147.2:p.Asp921= | |
| ENST00000414786.7:n.3347C>T | ||
| ENST00000445220.7:c.1815C>T | ENSP00000489407.2:p.Asp605= | |
| ENST00000664402.2:c.1305C>T | ENSP00000499475.1:p.Asp435= | |
| ENST00000673971.2:c.*1761C>T | ENSP00000501192.1:n.*1761C>T | |
| ENST00000445220.6:c.1815C>T | ENSP00000489407.2:p.Asp605= | |
| ENST00000262795.6:c.2763C>T | ENSP00000489147.2:p.Asp921= | |
| ENST00000664402.1:c.1305C>T | ENSP00000499475.1:p.Asp435= | |
| ENST00000673971.1:c.*1761C>T | ENSP00000501192.1:n.*1761C>T | |
| ENST00000262795.5:c.3159C>T | ENSP00000489147.1:p.Asp1053= | |
| ENST00000414786.6:n.3347C>T | ||
| ENST00000445220.5:c.3141C>T | ENSP00000489407.1:p.Asp1047= |