Linked Data
ClinVar Variation Id:
165526
dbSNP Id:
rs545441942
ExAC:
19:55667684 A / G
gnomAD v2:
19-55667684-A-G
gnomAD v3:
19-55156316-A-G
gnomAD v4:
19-55156316-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55156316A>G , CM000681.2:g.55156316A>G | GRCh38 |
| NC_000019.9:g.55667684A>G , CM000681.1:g.55667684A>G | GRCh37 |
| NC_000019.8:g.60359496A>G | NCBI36 |
| NG_007866.2:g.6417T>C , LRG_432:g.6417T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.167T>C MANE Select | ENSP00000341838.5:p.Ile56Thr | |
| ENST00000665070.1:c.167T>C | ENSP00000499482.1:p.Ile56Thr | |
| ENST00000344887.9:c.167T>C | ENSP00000341838.5:p.Ile56Thr | |
| ENST00000585806.5:n.166T>C | ||
| ENST00000586669.5:n.175T>C | ||
| ENST00000586858.1:c.130T>C | ENSP00000465258.1:p.Leu44= | |
| ENST00000587176.5:n.351T>C | ||
| ENST00000587871.1:c.786T>C | ||
| ENST00000588882.1:c.92T>C | ENSP00000466729.1:p.Ile31Thr | |
| ENST00000590463.1:n.339T>C | ||
| NM_000363.4:c.167T>C , LRG_432t1:c.167T>C | NP_000354.4:p.Ile56Thr | |
| NM_000363.5:c.167T>C MANE Select | NP_000354.4:p.Ile56Thr |