Linked Data
dbSNP Id:
rs761543074
ExAC:
22:51160680 A / G
gnomAD v2:
22-51160680-A-G
gnomAD v4:
22-50722252-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50722252A>G , CM000684.2:g.50722252A>G | GRCh38 |
| NC_000022.10:g.51160680A>G , CM000684.1:g.51160680A>G | GRCh37 |
| NC_000022.9:g.49507546A>G | NCBI36 |
| NG_008607.2:g.52898A>G | |
| NG_070230.1:g.58036A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262795.7:c.4020A>G | ENSP00000489147.2:p.Leu1340= | |
| ENST00000414786.7:n.4604A>G | ||
| ENST00000445220.7:c.3072A>G | ENSP00000489407.2:p.Leu1024= | |
| ENST00000664402.2:c.2562A>G | ENSP00000499475.1:p.Leu854= | |
| ENST00000673971.2:c.*3018A>G | ENSP00000501192.1:n.*3018A>G | |
| ENST00000445220.6:c.3072A>G | ENSP00000489407.2:p.Leu1024= | |
| ENST00000262795.6:c.4020A>G | ENSP00000489147.2:p.Leu1340= | |
| ENST00000664402.1:c.2562A>G | ENSP00000499475.1:p.Leu854= | |
| ENST00000673971.1:c.*3018A>G | ENSP00000501192.1:n.*3018A>G | |
| ENST00000262795.5:c.4416A>G | ENSP00000489147.1:p.Leu1472= | |
| ENST00000414786.6:n.4604A>G | ||
| ENST00000445220.5:c.4398A>G | ENSP00000489407.1:p.Leu1466= |