Linked Data
ClinVar Variation Id:
588161
dbSNP Id:
rs371876840
ExAC:
22:51159912 C / T
gnomAD v2:
22-51159912-C-T
gnomAD v3:
22-50721484-C-T
gnomAD v4:
22-50721484-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50721484C>T , CM000684.2:g.50721484C>T | GRCh38 |
| NC_000022.10:g.51159912C>T , CM000684.1:g.51159912C>T | GRCh37 |
| NC_000022.9:g.49506778C>T | NCBI36 |
| NG_008607.2:g.52130C>T | |
| NG_070230.1:g.57268C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262795.7:c.3252C>T | ENSP00000489147.2:p.Asn1084= | |
| ENST00000414786.7:n.3836C>T | ||
| ENST00000445220.7:c.2304C>T | ENSP00000489407.2:p.Asn768= | |
| ENST00000664402.2:c.1794C>T | ENSP00000499475.1:p.Asn598= | |
| ENST00000673971.2:c.*2250C>T | ENSP00000501192.1:n.*2250C>T | |
| ENST00000445220.6:c.2304C>T | ENSP00000489407.2:p.Asn768= | |
| ENST00000262795.6:c.3252C>T | ENSP00000489147.2:p.Asn1084= | |
| ENST00000664402.1:c.1794C>T | ENSP00000499475.1:p.Asn598= | |
| ENST00000673971.1:c.*2250C>T | ENSP00000501192.1:n.*2250C>T | |
| ENST00000262795.5:c.3648C>T | ENSP00000489147.1:p.Asn1216= | |
| ENST00000414786.6:n.3836C>T | ||
| ENST00000445220.5:c.3630C>T | ENSP00000489407.1:p.Asn1210= |