Linked Data
ClinVar Variation Id:
1795991
ClinVar RCV Id:
RCV002441365
dbSNP Id:
rs752121562
ExAC:
22:51159048 C / T
gnomAD v2:
22-51159048-C-T
gnomAD v3:
22-50720620-C-T
gnomAD v4:
22-50720620-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50720620C>T , CM000684.2:g.50720620C>T | GRCh38 |
| NC_000022.10:g.51159048C>T , CM000684.1:g.51159048C>T | GRCh37 |
| NC_000022.9:g.49505914C>T | NCBI36 |
| NG_008607.2:g.51266C>T | |
| NG_070230.1:g.56404C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262795.7:c.2388C>T | ENSP00000489147.2:p.Ser796= | |
| ENST00000414786.7:n.2972C>T | ||
| ENST00000445220.7:c.1440C>T | ENSP00000489407.2:p.Ser480= | |
| ENST00000664402.2:c.930C>T | ENSP00000499475.1:p.Ser310= | |
| ENST00000673971.2:c.*1386C>T | ENSP00000501192.1:n.*1386C>T | |
| ENST00000445220.6:c.1440C>T | ENSP00000489407.2:p.Ser480= | |
| ENST00000262795.6:c.2388C>T | ENSP00000489147.2:p.Ser796= | |
| ENST00000664402.1:c.930C>T | ENSP00000499475.1:p.Ser310= | |
| ENST00000673971.1:c.*1386C>T | ENSP00000501192.1:n.*1386C>T | |
| ENST00000262795.5:c.2784C>T | ENSP00000489147.1:p.Ser928= | |
| ENST00000414786.6:n.2972C>T | ||
| ENST00000445220.5:c.2766C>T | ENSP00000489407.1:p.Ser922= |