ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003585 (NFE)
Genomes Max Group AF
0.00003242 (AFR)
Exomes Max Group AF
0.00003632 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.2830056C>T , CM000666.2:g.2830056C>T | GRCh38 |
| NC_000004.11:g.2831783C>T , CM000666.1:g.2831783C>T | GRCh37 |
| NC_000004.10:g.2801581C>T | NCBI36 |
| NG_011609.1:g.42034C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435136.8:c.1234C>T | ENSP00000403231.3:p.Arg412Trp | |
| ENST00000503393.8:c.1150C>T MANE Select | ENSP00000422168.3:p.Arg384Trp | |
| ENST00000511747.6:c.1321C>T | ENSP00000424846.2:p.Arg441Trp | |
| ENST00000356331.9:c.1150C>T | ENSP00000348685.5:p.Arg384Trp | |
| ENST00000435136.6:c.1150C>T | ENSP00000403231.2:p.Arg384Trp | |
| ENST00000442312.6:c.1234C>T | ENSP00000388152.2:p.Arg412Trp | |
| ENST00000452765.6:c.1150C>T | ENSP00000409746.2:p.Arg384Trp | |
| ENST00000503393.6:c.1321C>T | ENSP00000422168.2:p.Arg441Trp | |
| ENST00000504450.1:n.539-1515C>T | ||
| ENST00000510204.5:n.1627C>T | ||
| ENST00000511747.5:c.1150C>T | ENSP00000424846.1:p.Arg384Trp | |
| ENST00000513069.1:c.260C>T | ||
| ENST00000515737.5:c.*1035C>T | ENSP00000422605.1:n.*1035C>T | |
| ENST00000515802.5:n.1256C>T | ||
| NM_001122681.1:c.1150C>T | NP_001116153.1:p.Arg384Trp | |
| NM_001145855.1:c.1234C>T | NP_001139327.1:p.Arg412Trp | |
| NM_001145856.1:c.1321C>T | NP_001139328.1:p.Arg441Trp | |
| NM_003023.4:c.1150C>T | NP_003014.3:p.Arg384Trp | |
| XM_005247998.3:c.1159C>T | XP_005248055.1:p.Arg387Trp | |
| XM_005247999.3:c.1150C>T | XP_005248056.1:p.Arg384Trp | |
| XM_011513547.1:c.1321C>T | XP_011511849.1:p.Arg441Trp | |
| XM_011513548.1:c.1150C>T | XP_011511850.1:p.Arg384Trp | |
| XM_011513549.1:c.1150C>T | XP_011511851.1:p.Arg384Trp | |
| XM_011513550.1:c.1150C>T | XP_011511852.1:p.Arg384Trp | |
| XM_011513551.1:c.1150C>T | XP_011511853.1:p.Arg384Trp | |
| XM_011513552.1:c.979C>T | XP_011511854.1:p.Arg327Trp | |
| XM_011513553.1:c.787C>T | XP_011511855.1:p.Arg263Trp | |
| XM_011513554.1:c.587-1515C>T | XP_011511856.1:n.587-1515C>T | |
| XM_011513555.1:c.587-1515C>T | XP_011511857.1:n.587-1515C>T | |
| XM_011513556.1:c.587-1515C>T | XP_011511858.1:n.587-1515C>T | |
| XR_924990.1:n.1154C>T | ||
| NM_001122681.2:c.1150C>T MANE Select | NP_001116153.1:p.Arg384Trp | |
| NM_001145855.2:c.1234C>T | NP_001139327.1:p.Arg412Trp | |
| NM_001145856.2:c.1321C>T | NP_001139328.1:p.Arg441Trp |