COSMIC:
COSM3746991 (not active)
Revel Score:
ENST00000371923 (MANE Select)
0.124
ENST00000271153
0.124
ENST00000371919
0.124
ENST00000526297
0.124
ENST00000452782
0.124
ENST00000468637
0.124
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.26053826 (SAS)
Genomes Max Group AF
0.24596929 (SAS)
Exomes Max Group AF
0.26076515 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46813503C>T , CM000663.2:g.46813503C>T | GRCh38 |
| NC_000001.10:g.47279175C>T , CM000663.1:g.47279175C>T | GRCh37 |
| NC_000001.9:g.47051762C>T | NCBI36 |
| NG_007939.1:g.19506C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371923.9:c.517C>T MANE Select | ENSP00000360991.4:p.Arg173Trp | |
| ENST00000640628.1:c.517C>T | ENSP00000492115.1:p.Arg173Trp | |
| ENST00000271153.8:c.517C>T | ENSP00000271153.4:p.Arg173Trp | |
| ENST00000371919.8:c.472C>T | ENSP00000360987.4:p.Arg158Trp | |
| ENST00000371923.8:c.517C>T | ENSP00000360991.4:p.Arg173Trp | |
| ENST00000452782.6:n.262C>T | ||
| ENST00000464439.6:c.517C>T | ENSP00000433068.1:p.Arg173Trp | |
| ENST00000468637.3:n.232C>T | ||
| ENST00000526297.5:c.28C>T | ENSP00000438995.1:p.Arg10Trp | |
| ENST00000529715.5:c.*227C>T | ENSP00000443212.1:n.*227C>T | |
| ENST00000534708.6:c.*66C>T | ENSP00000433367.2:n.*66C>T | |
| ENST00000614163.4:c.517C>T | ENSP00000484629.1:p.Arg173Trp | |
| NM_000779.3:c.517C>T | NP_000770.2:p.Arg173Trp | |
| NM_001099772.1:c.517C>T | NP_001093242.1:p.Arg173Trp | |
| XM_011540831.1:c.472C>T | XP_011539133.1:p.Arg158Trp | |
| XM_011540832.1:c.517C>T | XP_011539134.1:p.Arg173Trp | |
| XM_011540833.1:c.-184C>T | XP_011539135.1:n.-184C>T | |
| XM_011540834.1:c.-181C>T | XP_011539136.1:n.-181C>T | |
| XR_946559.1:n.604C>T | ||
| NM_001319161.1:c.472C>T | NP_001306090.1:p.Arg158Trp | |
| NM_001319162.1:c.28C>T | NP_001306091.1:p.Arg10Trp | |
| NM_001319163.1:c.28C>T | NP_001306092.1:p.Arg10Trp | |
| NR_135003.1:n.601C>T | ||
| XM_011540832.2:c.517C>T | XP_011539134.1:p.Arg173Trp | |
| XM_017000466.1:c.472C>T | XP_016855955.1:p.Arg158Trp | |
| XR_946559.2:n.553C>T | ||
| NM_000779.4:c.517C>T | NP_000770.2:p.Arg173Trp | |
| NM_001099772.2:c.517C>T MANE Select | NP_001093242.1:p.Arg173Trp | |
| NM_001319161.2:c.472C>T | NP_001306090.1:p.Arg158Trp | |
| NM_001319162.2:c.28C>T | NP_001306091.1:p.Arg10Trp | |
| NM_001319163.2:c.28C>T | NP_001306092.1:p.Arg10Trp | |
| NR_135003.2:n.553C>T |