ClinGen Evidence Repository:
Classification
Uncertain Significance
COSMIC:
Revel Score:
ENST00000344691
0.796
ENST00000300305
0.796
ENST00000437180
0.796
ENST00000325074
0.796
ENST00000399245
0.796
ENST00000358356
0.796
ENST00000399237
0.796
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34834521G>A , CM000683.2:g.34834521G>A | GRCh38 |
| NC_000021.8:g.36206818G>A , CM000683.1:g.36206818G>A | GRCh37 |
| NC_000021.7:g.35128688G>A | NCBI36 |
| NG_011402.2:g.1155191C>T , LRG_482:g.1155191C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.694C>T MANE Select | ENSP00000501943.1:p.Arg232Trp | |
| ENST00000300305.7:c.694C>T | ENSP00000300305.3:p.Arg232Trp | |
| ENST00000344691.8:c.613C>T | ENSP00000340690.4:p.Arg205Trp | |
| ENST00000358356.9:c.613C>T | ENSP00000351123.5:p.Arg205Trp | |
| ENST00000399237.6:c.658C>T | ENSP00000382182.2:p.Arg220Trp | |
| ENST00000399240.5:c.532+24953C>T | ENSP00000382184.1:n.532+24953C>T | |
| ENST00000437180.5:c.694C>T | ENSP00000409227.1:p.Arg232Trp | |
| ENST00000469087.1:n.230C>T | ||
| ENST00000482318.5:c.*284C>T | ENSP00000477067.1:n.*284C>T | |
| NM_001001890.2:c.613C>T | NP_001001890.1:p.Arg205Trp | |
| NM_001122607.1:c.613C>T | NP_001116079.1:p.Arg205Trp | |
| NM_001754.4:c.694C>T , LRG_482t1:c.694C>T | NP_001745.2:p.Arg232Trp | |
| XM_005261068.3:c.658C>T | XP_005261125.1:p.Arg220Trp | |
| XM_005261069.3:c.613+24953C>T | XP_005261126.1:n.613+24953C>T | |
| XM_011529766.1:c.694C>T | XP_011528068.1:p.Arg232Trp | |
| XM_011529767.1:c.655C>T | XP_011528069.1:p.Arg219Trp | |
| XM_011529768.1:c.574+24953C>T | XP_011528070.1:n.574+24953C>T | |
| XM_011529770.1:c.694C>T | XP_011528072.1:p.Arg232Trp | |
| XR_937576.1:n.873C>T | ||
| XM_005261069.4:c.613+24953C>T | XP_005261126.1:n.613+24953C>T | |
| XM_011529766.2:c.694C>T | XP_011528068.1:p.Arg232Trp | |
| XM_011529767.2:c.655C>T | XP_011528069.1:p.Arg219Trp | |
| XM_011529768.2:c.574+24953C>T | XP_011528070.1:n.574+24953C>T | |
| XM_011529770.2:c.694C>T | XP_011528072.1:p.Arg232Trp | |
| XM_017028487.1:c.541C>T | XP_016883976.1:p.Arg181Trp | |
| XR_937576.2:n.920C>T | ||
| NM_001001890.3:c.613C>T | NP_001001890.1:p.Arg205Trp | |
| NM_001122607.2:c.613C>T | NP_001116079.1:p.Arg205Trp | |
| NM_001754.5:c.694C>T MANE Select | NP_001745.2:p.Arg232Trp |