Linked Data
ClinVar Variation Id:
205549
dbSNP Id:
rs796052510
gnomAD v2:
5-161576158-C-T
gnomAD v4:
5-162149152-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.162149152C>T , CM000667.2:g.162149152C>T | GRCh38 |
| NC_000005.9:g.161576158C>T , CM000667.1:g.161576158C>T | GRCh37 |
| NC_000005.8:g.161508736C>T | NCBI36 |
| NG_009290.1:g.86511C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356592.8:c.968C>T | ||
| ENST00000361925.9:c.1087C>T | ENSP00000354651.5:p.Arg363Trp | |
| ENST00000522053.2:n.858C>T | ||
| ENST00000523372.2:c.1050C>T | ||
| ENST00000638253.1:n.221C>T | ||
| ENST00000638552.1:c.682C>T | ENSP00000491763.1:p.Arg228Trp | |
| ENST00000638660.1:c.682C>T | ENSP00000492869.1:p.Arg228Trp | |
| ENST00000638772.1:c.967C>T | ENSP00000491557.1:p.Arg323Trp | |
| ENST00000638877.1:c.844C>T | ||
| ENST00000639046.1:c.358C>T | ENSP00000492659.1:p.Arg120Trp | |
| ENST00000639111.2:c.967C>T | ENSP00000492125.2:p.Arg323Trp | |
| ENST00000639213.2:c.967C>T MANE Select | ENSP00000491909.2:p.Arg323Trp | |
| ENST00000639278.1:c.895C>T | ENSP00000491958.1:p.Arg299Trp | |
| ENST00000639384.1:c.967C>T | ENSP00000491240.1:p.Arg323Trp | |
| ENST00000639424.1:c.*167C>T | ENSP00000491245.1:n.*167C>T | |
| ENST00000639683.1:c.901C>T | ENSP00000492581.1:p.Arg301Trp | |
| ENST00000639975.1:c.901C>T | ENSP00000492096.1:p.Arg301Trp | |
| ENST00000640500.1:n.265C>T | ||
| ENST00000640574.1:c.682C>T | ENSP00000491582.1:p.Arg228Trp | |
| ENST00000640739.1:n.3498C>T | ||
| ENST00000640910.1:c.405C>T | ||
| ENST00000640985.1:c.880C>T | ENSP00000492293.1:p.Arg294Trp | |
| ENST00000641017.1:c.967C>T | ENSP00000493461.1:p.Arg323Trp | |
| ENST00000356592.7:c.967C>T | ENSP00000349000.3:p.Arg323Trp | |
| ENST00000361925.8:c.967C>T | ENSP00000354651.4:p.Arg323Trp | |
| ENST00000414552.6:c.1087C>T | ENSP00000410732.2:p.Arg363Trp | |
| ENST00000522990.5:c.*569C>T | ENSP00000430732.1:n.*569C>T | |
| ENST00000523372.1:c.1088C>T | ENSP00000430124.1:n.1088C>T | |
| NM_000816.3:c.967C>T | NP_000807.2:p.Arg323Trp | |
| NM_198903.2:c.1087C>T | NP_944493.2:p.Arg363Trp | |
| NM_198904.2:c.967C>T | NP_944494.1:p.Arg323Trp | |
| NM_001375339.1:c.958C>T | NP_001362268.1:p.Arg320Trp | |
| NM_001375340.1:c.923-2578C>T | NP_001362269.1:n.923-2578C>T | |
| NM_001375341.1:c.964C>T | NP_001362270.1:p.Arg322Trp | |
| NM_001375342.1:c.964C>T | NP_001362271.1:p.Arg322Trp | |
| NM_001375343.1:c.1087C>T | NP_001362272.1:p.Arg363Trp | |
| NM_001375344.1:c.1006C>T | NP_001362273.1:p.Arg336Trp | |
| NM_001375345.1:c.901C>T | NP_001362274.1:p.Arg301Trp | |
| NM_001375346.1:c.901C>T | NP_001362275.1:p.Arg301Trp | |
| NM_001375347.1:c.880C>T | NP_001362276.1:p.Arg294Trp | |
| NM_001375348.1:c.547C>T | NP_001362277.1:p.Arg183Trp | |
| NM_001375349.1:c.682C>T | NP_001362278.1:p.Arg228Trp | |
| NM_001375350.1:c.547C>T | NP_001362279.1:p.Arg183Trp | |
| NM_198904.3:c.967C>T | NP_944494.1:p.Arg323Trp | |
| NM_198904.4:c.967C>T MANE Select | NP_944494.1:p.Arg323Trp |