Linked Data
ClinVar Variation Id:
60708
dbSNP Id:
rs397514737
gnomAD v2:
5-161576159-G-A
COSMIC:
COSM3661678
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.162149153G>A , CM000667.2:g.162149153G>A | GRCh38 |
| NC_000005.9:g.161576159G>A , CM000667.1:g.161576159G>A | GRCh37 |
| NC_000005.8:g.161508737G>A | NCBI36 |
| NG_009290.1:g.86512G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356592.8:c.969G>A | ||
| ENST00000361925.9:c.1088G>A | ENSP00000354651.5:p.Arg363Gln | |
| ENST00000522053.2:n.859G>A | ||
| ENST00000523372.2:c.1051G>A | ||
| ENST00000638253.1:n.222G>A | ||
| ENST00000638552.1:c.683G>A | ENSP00000491763.1:p.Arg228Gln | |
| ENST00000638660.1:c.683G>A | ENSP00000492869.1:p.Arg228Gln | |
| ENST00000638772.1:c.968G>A | ENSP00000491557.1:p.Arg323Gln | |
| ENST00000638877.1:c.845G>A | ||
| ENST00000639046.1:c.359G>A | ENSP00000492659.1:p.Arg120Gln | |
| ENST00000639111.2:c.968G>A | ENSP00000492125.2:p.Arg323Gln | |
| ENST00000639213.2:c.968G>A MANE Select | ENSP00000491909.2:p.Arg323Gln | |
| ENST00000639278.1:c.896G>A | ENSP00000491958.1:p.Arg299Gln | |
| ENST00000639384.1:c.968G>A | ENSP00000491240.1:p.Arg323Gln | |
| ENST00000639424.1:c.*168G>A | ENSP00000491245.1:n.*168G>A | |
| ENST00000639683.1:c.902G>A | ENSP00000492581.1:p.Arg301Gln | |
| ENST00000639975.1:c.902G>A | ENSP00000492096.1:p.Arg301Gln | |
| ENST00000640500.1:n.266G>A | ||
| ENST00000640574.1:c.683G>A | ENSP00000491582.1:p.Arg228Gln | |
| ENST00000640739.1:n.3499G>A | ||
| ENST00000640910.1:c.406G>A | ||
| ENST00000640985.1:c.881G>A | ENSP00000492293.1:p.Arg294Gln | |
| ENST00000641017.1:c.968G>A | ENSP00000493461.1:p.Arg323Gln | |
| ENST00000356592.7:c.968G>A | ENSP00000349000.3:p.Arg323Gln | |
| ENST00000361925.8:c.968G>A | ENSP00000354651.4:p.Arg323Gln | |
| ENST00000414552.6:c.1088G>A | ENSP00000410732.2:p.Arg363Gln | |
| ENST00000522990.5:c.*570G>A | ENSP00000430732.1:n.*570G>A | |
| ENST00000523372.1:c.1089G>A | ENSP00000430124.1:n.1089G>A | |
| NM_000816.3:c.968G>A | NP_000807.2:p.Arg323Gln | |
| NM_198903.2:c.1088G>A | NP_944493.2:p.Arg363Gln | |
| NM_198904.2:c.968G>A | NP_944494.1:p.Arg323Gln | |
| NM_001375339.1:c.959G>A | NP_001362268.1:p.Arg320Gln | |
| NM_001375340.1:c.923-2577G>A | NP_001362269.1:n.923-2577G>A | |
| NM_001375341.1:c.965G>A | NP_001362270.1:p.Arg322Gln | |
| NM_001375342.1:c.965G>A | NP_001362271.1:p.Arg322Gln | |
| NM_001375343.1:c.1088G>A | NP_001362272.1:p.Arg363Gln | |
| NM_001375344.1:c.1007G>A | NP_001362273.1:p.Arg336Gln | |
| NM_001375345.1:c.902G>A | NP_001362274.1:p.Arg301Gln | |
| NM_001375346.1:c.902G>A | NP_001362275.1:p.Arg301Gln | |
| NM_001375347.1:c.881G>A | NP_001362276.1:p.Arg294Gln | |
| NM_001375348.1:c.548G>A | NP_001362277.1:p.Arg183Gln | |
| NM_001375349.1:c.683G>A | NP_001362278.1:p.Arg228Gln | |
| NM_001375350.1:c.548G>A | NP_001362279.1:p.Arg183Gln | |
| NM_198904.3:c.968G>A | NP_944494.1:p.Arg323Gln | |
| NM_198904.4:c.968G>A MANE Select | NP_944494.1:p.Arg323Gln |