Linked Data
dbSNP Id:
rs2083276600
gnomAD v4:
22-50720656-C-T
MyVariant Identifiers:
chr22:g.51159084C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50720656C>T , CM000684.2:g.50720656C>T | GRCh38 |
| NC_000022.10:g.51159084C>T , CM000684.1:g.51159084C>T | GRCh37 |
| NC_000022.9:g.49505950C>T | NCBI36 |
| NG_008607.2:g.51302C>T | |
| NG_070230.1:g.56440C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262795.7:c.2424C>T | ENSP00000489147.2:p.Leu808= | |
| ENST00000414786.7:n.3008C>T | ||
| ENST00000445220.7:c.1476C>T | ENSP00000489407.2:p.Leu492= | |
| ENST00000664402.2:c.966C>T | ENSP00000499475.1:p.Leu322= | |
| ENST00000673971.2:c.*1422C>T | ENSP00000501192.1:n.*1422C>T | |
| ENST00000445220.6:c.1476C>T | ENSP00000489407.2:p.Leu492= | |
| ENST00000262795.6:c.2424C>T | ENSP00000489147.2:p.Leu808= | |
| ENST00000664402.1:c.966C>T | ENSP00000499475.1:p.Leu322= | |
| ENST00000673971.1:c.*1422C>T | ENSP00000501192.1:n.*1422C>T | |
| ENST00000262795.5:c.2820C>T | ENSP00000489147.1:p.Leu940= | |
| ENST00000414786.6:n.3008C>T | ||
| ENST00000445220.5:c.2802C>T | ENSP00000489407.1:p.Leu934= |