Linked Data
dbSNP Id:
rs769377822
ExAC:
22:51136076 C / T
gnomAD v2:
22-51136076-C-T
gnomAD v3:
22-50697648-C-T
gnomAD v4:
22-50697648-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50697648C>T , CM000684.2:g.50697648C>T | GRCh38 |
| NC_000022.10:g.51136076C>T , CM000684.1:g.51136076C>T | GRCh37 |
| NC_000022.9:g.49482942C>T | NCBI36 |
| NG_008607.2:g.28294C>T | |
| NG_070230.1:g.33513C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262795.7:c.1032C>T | ENSP00000489147.2:p.Ile344= | |
| ENST00000414786.7:n.1616C>T | ||
| ENST00000445220.7:c.84C>T | ENSP00000489407.2:p.Ile28= | |
| ENST00000673971.2:c.1389C>T | ENSP00000501192.1:p.Ile463= | |
| ENST00000445220.6:c.84C>T | ENSP00000489407.2:p.Ile28= | |
| ENST00000262795.6:c.1032C>T | ENSP00000489147.2:p.Ile344= | |
| ENST00000673971.1:c.1389C>T | ENSP00000501192.1:p.Ile463= | |
| ENST00000673995.1:c.85C>T | ||
| ENST00000262795.5:c.1428C>T | ENSP00000489147.1:p.Ile476= | |
| ENST00000414786.6:n.1616C>T | ||
| ENST00000445220.5:c.1410C>T | ENSP00000489407.1:p.Ile470= |