Linked Data
ClinVar Variation Id:
190975
dbSNP Id:
rs369162678
ExAC:
1:5924015 G / A
gnomAD v2:
1-5924015-G-A
gnomAD v3:
1-5863955-G-A
gnomAD v4:
1-5863955-G-A
COSMIC:
COSM4009106
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.5863955G>A , CM000663.2:g.5863955G>A | GRCh38 |
| NC_000001.10:g.5924015G>A , CM000663.1:g.5924015G>A | GRCh37 |
| NC_000001.9:g.5846602G>A | NCBI36 |
| NG_011724.2:g.133517C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378156.9:c.4075C>T MANE Select | ENSP00000367398.4:p.Arg1359Trp | |
| ENST00000378156.8:c.4075C>T | ENSP00000367398.4:p.Arg1359Trp | |
| ENST00000378161.5:n.3226C>T | ||
| ENST00000378169.7:c.*2976C>T | ENSP00000367411.3:n.*2976C>T | |
| ENST00000460696.1:n.2823C>T | ||
| ENST00000478423.6:n.3807C>T | ||
| ENST00000489180.6:c.*1886C>T | ENSP00000423747.1:n.*1886C>T | |
| NM_001291593.1:c.2536C>T | NP_001278522.1:p.Arg846Trp | |
| NM_001291594.1:c.2539C>T | NP_001278523.1:p.Arg847Trp | |
| NM_015102.4:c.4075C>T | NP_055917.1:p.Arg1359Trp | |
| NR_111987.1:n.4890C>T | ||
| XM_006710563.2:c.4075C>T | XP_006710626.1:p.Arg1359Trp | |
| XM_006710565.2:c.4075C>T | XP_006710628.1:p.Arg1359Trp | |
| XM_011541213.1:c.4072C>T | XP_011539515.1:p.Arg1358Trp | |
| XM_011541214.1:c.4033C>T | XP_011539516.1:p.Arg1345Trp | |
| XM_011541215.1:c.3964C>T | XP_011539517.1:p.Arg1322Trp | |
| XM_011541216.1:c.4075C>T | XP_011539518.1:p.Arg1359Trp | |
| XM_011541217.1:c.4075C>T | XP_011539519.1:p.Arg1359Trp | |
| XM_011541218.1:c.4075C>T | XP_011539520.1:p.Arg1359Trp | |
| XM_011541219.1:c.4021C>T | XP_011539521.1:p.Arg1341Trp | |
| XM_006710563.3:c.4075C>T | XP_006710626.1:p.Arg1359Trp | |
| XM_011541216.2:c.4075C>T | XP_011539518.1:p.Arg1359Trp | |
| XM_011541217.2:c.4075C>T | XP_011539519.1:p.Arg1359Trp | |
| XM_011541218.2:c.4075C>T | XP_011539520.1:p.Arg1359Trp | |
| XM_017000996.1:c.4030C>T | XP_016856485.1:p.Arg1344Trp | |
| XM_017000997.1:c.4075C>T | XP_016856486.1:p.Arg1359Trp | |
| XM_017000999.1:c.3547C>T | XP_016856488.1:p.Arg1183Trp | |
| XM_017001000.2:c.3547C>T | XP_016856489.1:p.Arg1183Trp | |
| XM_017001001.1:c.3277C>T | XP_016856490.1:p.Arg1093Trp | |
| XM_017001003.1:c.2536C>T | XP_016856492.1:p.Arg846Trp | |
| XR_001737114.1:n.3941C>T | ||
| XR_001737115.1:n.3926C>T | ||
| NM_015102.5:c.4075C>T MANE Select | NP_055917.1:p.Arg1359Trp | |
| NM_001291593.2:c.2536C>T | NP_001278522.1:p.Arg846Trp | |
| NM_001291594.2:c.2539C>T | NP_001278523.1:p.Arg847Trp | |
| NR_111987.2:n.4842C>T |