Linked Data
ClinVar Variation Id:
1256982
dbSNP Id:
rs558643743
ExAC:
22:51160206 C / T
gnomAD v2:
22-51160206-C-T
gnomAD v3:
22-50721778-C-T
gnomAD v4:
22-50721778-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50721778C>T , CM000684.2:g.50721778C>T | GRCh38 |
| NC_000022.10:g.51160206C>T , CM000684.1:g.51160206C>T | GRCh37 |
| NC_000022.9:g.49507072C>T | NCBI36 |
| NG_008607.2:g.52424C>T | |
| NG_070230.1:g.57562C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262795.7:c.3546C>T | ENSP00000489147.2:p.Asn1182= | |
| ENST00000414786.7:n.4130C>T | ||
| ENST00000445220.7:c.2598C>T | ENSP00000489407.2:p.Asn866= | |
| ENST00000664402.2:c.2088C>T | ENSP00000499475.1:p.Asn696= | |
| ENST00000673971.2:c.*2544C>T | ENSP00000501192.1:n.*2544C>T | |
| ENST00000445220.6:c.2598C>T | ENSP00000489407.2:p.Asn866= | |
| ENST00000262795.6:c.3546C>T | ENSP00000489147.2:p.Asn1182= | |
| ENST00000664402.1:c.2088C>T | ENSP00000499475.1:p.Asn696= | |
| ENST00000673971.1:c.*2544C>T | ENSP00000501192.1:n.*2544C>T | |
| ENST00000262795.5:c.3942C>T | ENSP00000489147.1:p.Asn1314= | |
| ENST00000414786.6:n.4130C>T | ||
| ENST00000445220.5:c.3924C>T | ENSP00000489407.1:p.Asn1308= |