Linked Data
ClinVar Variation Id:
1012751
dbSNP Id:
rs369614121
ExAC:
5:161576163 A / G
gnomAD v2:
5-161576163-A-G
gnomAD v3:
5-162149157-A-G
gnomAD v4:
5-162149157-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.162149157A>G , CM000667.2:g.162149157A>G | GRCh38 |
| NC_000005.9:g.161576163A>G , CM000667.1:g.161576163A>G | GRCh37 |
| NC_000005.8:g.161508741A>G | NCBI36 |
| NG_009290.1:g.86516A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356592.8:c.973A>G | ||
| ENST00000361925.9:c.1092A>G | ENSP00000354651.5:p.Lys364= | |
| ENST00000522053.2:n.863A>G | ||
| ENST00000523372.2:c.1055A>G | ||
| ENST00000638253.1:n.226A>G | ||
| ENST00000638552.1:c.687A>G | ENSP00000491763.1:p.Lys229= | |
| ENST00000638660.1:c.687A>G | ENSP00000492869.1:p.Lys229= | |
| ENST00000638772.1:c.972A>G | ENSP00000491557.1:p.Lys324= | |
| ENST00000638877.1:c.849A>G | ||
| ENST00000639046.1:c.363A>G | ENSP00000492659.1:p.Lys121= | |
| ENST00000639111.2:c.972A>G | ENSP00000492125.2:p.Lys324= | |
| ENST00000639213.2:c.972A>G MANE Select | ENSP00000491909.2:p.Lys324= | |
| ENST00000639278.1:c.900A>G | ENSP00000491958.1:p.Lys300= | |
| ENST00000639384.1:c.972A>G | ENSP00000491240.1:p.Lys324= | |
| ENST00000639424.1:c.*172A>G | ENSP00000491245.1:n.*172A>G | |
| ENST00000639683.1:c.906A>G | ENSP00000492581.1:p.Lys302= | |
| ENST00000639975.1:c.906A>G | ENSP00000492096.1:p.Lys302= | |
| ENST00000640500.1:n.270A>G | ||
| ENST00000640574.1:c.687A>G | ENSP00000491582.1:p.Lys229= | |
| ENST00000640739.1:n.3503A>G | ||
| ENST00000640910.1:c.410A>G | ||
| ENST00000640985.1:c.885A>G | ENSP00000492293.1:p.Lys295= | |
| ENST00000641017.1:c.972A>G | ENSP00000493461.1:p.Lys324= | |
| ENST00000356592.7:c.972A>G | ENSP00000349000.3:p.Lys324= | |
| ENST00000361925.8:c.972A>G | ENSP00000354651.4:p.Lys324= | |
| ENST00000414552.6:c.1092A>G | ENSP00000410732.2:p.Lys364= | |
| ENST00000522990.5:c.*574A>G | ENSP00000430732.1:n.*574A>G | |
| ENST00000523372.1:c.1093A>G | ENSP00000430124.1:n.1093A>G | |
| NM_000816.3:c.972A>G | NP_000807.2:p.Lys324= | |
| NM_198903.2:c.1092A>G | NP_944493.2:p.Lys364= | |
| NM_198904.2:c.972A>G | NP_944494.1:p.Lys324= | |
| NM_001375339.1:c.963A>G | NP_001362268.1:p.Lys321= | |
| NM_001375340.1:c.923-2573A>G | NP_001362269.1:n.923-2573A>G | |
| NM_001375341.1:c.969A>G | NP_001362270.1:p.Lys323= | |
| NM_001375342.1:c.969A>G | NP_001362271.1:p.Lys323= | |
| NM_001375343.1:c.1092A>G | NP_001362272.1:p.Lys364= | |
| NM_001375344.1:c.1011A>G | NP_001362273.1:p.Lys337= | |
| NM_001375345.1:c.906A>G | NP_001362274.1:p.Lys302= | |
| NM_001375346.1:c.906A>G | NP_001362275.1:p.Lys302= | |
| NM_001375347.1:c.885A>G | NP_001362276.1:p.Lys295= | |
| NM_001375348.1:c.552A>G | NP_001362277.1:p.Lys184= | |
| NM_001375349.1:c.687A>G | NP_001362278.1:p.Lys229= | |
| NM_001375350.1:c.552A>G | NP_001362279.1:p.Lys184= | |
| NM_198904.3:c.972A>G | NP_944494.1:p.Lys324= | |
| NM_198904.4:c.972A>G MANE Select | NP_944494.1:p.Lys324= |