ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00015466 (AFR)
Genomes Max Group AF
0.0001127 (AFR)
Exomes Max Group AF
0.00013982 (AFR)
Revel Score:
ENST00000318282
0.177
ENST00000389126
0.177
ENST00000341243
0.177
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.14234215C>T , CM000678.2:g.14234215C>T | GRCh38 |
| NC_000016.9:g.14328072C>T , CM000678.1:g.14328072C>T | GRCh37 |
| NC_000016.8:g.14235573C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000571589.6:c.763C>T MANE Select | ENSP00000459626.2:p.Arg255Trp | |
| ENST00000318282.9:c.763C>T | ENSP00000339086.4:p.Arg255Trp | |
| ENST00000571589.5:c.763C>T | ENSP00000459626.1:p.Arg255Trp | |
| ENST00000572567.5:c.730C>T | ENSP00000459879.1:p.Arg244Trp | |
| ENST00000573051.1:c.610C>T | ENSP00000460589.1:p.Arg204Trp | |
| ENST00000574045.5:c.763C>T | ENSP00000459205.1:p.Arg255Trp | |
| NM_001308142.1:c.763C>T | NP_001295071.1:p.Arg255Trp | |
| NM_014048.3:c.763C>T | NP_054767.3:p.Arg255Trp | |
| NM_014048.4:c.763C>T | NP_054767.3:p.Arg255Trp | |
| XM_005255452.2:c.763C>T | XP_005255509.1:p.Arg255Trp | |
| XM_005255453.3:c.763C>T | XP_005255510.1:p.Arg255Trp | |
| XM_005255455.2:c.730C>T | XP_005255512.1:p.Arg244Trp | |
| XM_006720908.2:c.763C>T | XP_006720971.1:p.Arg255Trp | |
| XM_006720909.2:c.763C>T | XP_006720972.1:p.Arg255Trp | |
| XM_006720912.2:c.676C>T | XP_006720975.1:p.Arg226Trp | |
| XM_006720913.1:c.763C>T | XP_006720976.1:p.Arg255Trp | |
| XM_006720914.1:c.763C>T | XP_006720977.1:p.Arg255Trp | |
| XM_011522568.1:c.763C>T | XP_011520870.1:p.Arg255Trp | |
| XM_011522569.1:c.550C>T | XP_011520871.1:p.Arg184Trp | |
| NM_001365411.1:c.730C>T | NP_001352340.1:p.Arg244Trp | |
| NM_001365412.1:c.763C>T | NP_001352341.1:p.Arg255Trp | |
| NM_001365413.1:c.550C>T | NP_001352342.1:p.Arg184Trp | |
| NM_001365414.1:c.550C>T | NP_001352343.1:p.Arg184Trp | |
| NM_001365415.1:c.730C>T | NP_001352344.1:p.Arg244Trp | |
| NM_001365416.1:c.550C>T | NP_001352345.1:p.Arg184Trp | |
| XM_005255452.3:c.763C>T | XP_005255509.1:p.Arg255Trp | |
| XM_005255453.5:c.763C>T | XP_005255510.1:p.Arg255Trp | |
| XM_006720908.4:c.763C>T | XP_006720971.1:p.Arg255Trp | |
| XM_006720909.4:c.763C>T | XP_006720972.1:p.Arg255Trp | |
| XM_006720912.4:c.676C>T | XP_006720975.1:p.Arg226Trp | |
| XM_006720914.2:c.763C>T | XP_006720977.1:p.Arg255Trp | |
| XM_011522568.2:c.763C>T | XP_011520870.1:p.Arg255Trp | |
| XM_011522569.2:c.550C>T | XP_011520871.1:p.Arg184Trp | |
| XM_017023501.2:c.763C>T | XP_016878990.1:p.Arg255Trp | |
| XM_017023502.1:c.763C>T | XP_016878991.1:p.Arg255Trp | |
| XM_017023503.2:c.652C>T | XP_016878992.1:p.Arg218Trp | |
| XM_017023504.1:c.730C>T | XP_016878993.1:p.Arg244Trp | |
| XM_017023505.2:c.676C>T | XP_016878994.1:p.Arg226Trp | |
| NM_001308142.2:c.763C>T MANE Select | NP_001295071.1:p.Arg255Trp | |
| NM_001365411.2:c.730C>T | NP_001352340.1:p.Arg244Trp | |
| NM_001365412.2:c.763C>T | NP_001352341.1:p.Arg255Trp | |
| NM_001365413.2:c.550C>T | NP_001352342.1:p.Arg184Trp | |
| NM_001365414.2:c.550C>T | NP_001352343.1:p.Arg184Trp | |
| NM_001365415.2:c.730C>T | NP_001352344.1:p.Arg244Trp | |
| NM_001365416.2:c.550C>T | NP_001352345.1:p.Arg184Trp |