COSMIC:
COSM5341967 (not active)
COSM5341968 (not active)
Revel Score:
ENST00000320574 (MANE Select)
0.398
ENST00000455752
0.398
ENST00000535270
0.398
ENST00000539006
0.398
ENST00000376577
0.398
ENST00000535934
0.398
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00017092 (EAS)
Exomes Max Group AF
0.00017343 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.132673598G>A , CM000674.2:g.132673598G>A | GRCh38 |
| NC_000012.11:g.133250184G>A , CM000674.1:g.133250184G>A | GRCh37 |
| NC_000012.10:g.131760257G>A | NCBI36 |
| NG_033840.1:g.18927C>T , LRG_789:g.18927C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539215.6:c.44C>T | ||
| ENST00000545015.2:n.1363C>T | ||
| ENST00000699982.1:c.1190C>T | ||
| ENST00000699983.1:c.1190C>T | ||
| ENST00000699984.1:c.1190C>T | ||
| ENST00000320574.10:c.1336C>T MANE Select | ENSP00000322570.5:p.Arg446Trp | |
| ENST00000672742.1:c.*838C>T | ENSP00000500279.1:n.*838C>T | |
| ENST00000320574.9:c.1336C>T | ENSP00000322570.5:p.Arg446Trp | |
| ENST00000535270.5:c.1255C>T | ENSP00000445753.1:p.Arg419Trp | |
| ENST00000535934.2:n.1211C>T | ||
| ENST00000537064.5:c.*383C>T | ENSP00000442578.1:n.*383C>T | |
| ENST00000539215.5:n.44C>T | ||
| NM_006231.3:c.1336C>T , LRG_789t1:c.1336C>T | NP_006222.2:p.Arg446Trp | |
| XM_011534795.1:c.1336C>T | XP_011533097.1:p.Arg446Trp | |
| XM_011534796.1:c.1207C>T | XP_011533098.1:p.Arg403Trp | |
| XM_011534797.1:c.415C>T | XP_011533099.1:p.Arg139Trp | |
| XM_011534799.1:c.1336C>T | XP_011533101.1:p.Arg446Trp | |
| XM_011534800.1:c.1336C>T | XP_011533102.1:p.Arg446Trp | |
| XM_011534801.1:c.1336C>T | XP_011533103.1:p.Arg446Trp | |
| XR_941395.1:n.1545C>T | ||
| XM_011534795.3:c.1336C>T | XP_011533097.1:p.Arg446Trp | |
| XM_011534797.3:c.415C>T | XP_011533099.1:p.Arg139Trp | |
| XM_011534799.2:c.1336C>T | XP_011533101.1:p.Arg446Trp | |
| XR_002957338.1:n.1540C>T | ||
| XR_002957339.1:n.1540C>T | ||
| XR_941395.2:n.1540C>T | ||
| NM_006231.4:c.1336C>T MANE Select | NP_006222.2:p.Arg446Trp |