Revel Score:
ENST00000531154
0.471
ENST00000398006
0.471
ENST00000428306
0.471
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005275 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00005248 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.111809716G>A , CM000673.2:g.111809716G>A | GRCh38 |
| NC_000011.9:g.111680440G>A , CM000673.1:g.111680440G>A | GRCh37 |
| NC_000011.8:g.111185650G>A | NCBI36 |
| NG_009210.1:g.66865C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000616540.5:c.1660C>T MANE Select | ENSP00000482437.1:p.Arg554Trp | |
| ENST00000398006.6:c.1126C>T | ENSP00000381090.2:p.Arg376Trp | |
| ENST00000526272.5:n.224C>T | ||
| ENST00000527212.5:n.179C>T | ||
| ENST00000530851.6:n.595C>T | ||
| ENST00000531154.5:c.1147C>T | ENSP00000435517.1:p.Arg383Trp | |
| ENST00000532425.6:c.393C>T | ||
| ENST00000614444.4:c.1639C>T | ENSP00000484200.1:p.Arg547Trp | |
| ENST00000616540.4:c.1660C>T | ENSP00000482437.1:p.Arg554Trp | |
| ENST00000619129.4:c.*1191C>T | ENSP00000480661.1:n.*1191C>T | |
| ENST00000622211.4:c.2338C>T | ENSP00000482396.1:p.Arg780Trp | |
| NM_001077690.1:c.1639C>T | NP_001071158.1:p.Arg547Trp | |
| NM_001077691.1:c.1147C>T | NP_001071159.1:p.Arg383Trp | |
| NM_001077692.1:c.1126C>T | NP_001071160.1:p.Arg376Trp | |
| NM_024740.2:c.1660C>T MANE Select | NP_079016.2:p.Arg554Trp | |
| XM_005277723.3:c.1660C>T | XP_005277780.1:p.Arg554Trp | |
| XM_005277724.3:c.1639C>T | XP_005277781.1:p.Arg547Trp | |
| XM_006718913.2:c.1660C>T | XP_006718976.1:p.Arg554Trp | |
| XM_011542990.1:c.1660C>T | XP_011541292.1:p.Arg554Trp | |
| XM_011542991.1:c.1639C>T | XP_011541293.1:p.Arg547Trp | |
| XM_011542992.1:c.1660C>T | XP_011541294.1:p.Arg554Trp | |
| XM_011542993.1:c.1147C>T | XP_011541295.1:p.Arg383Trp | |
| XM_011542994.1:c.1147C>T | XP_011541296.1:p.Arg383Trp | |
| XM_011542995.1:c.1147C>T | XP_011541297.1:p.Arg383Trp | |
| XM_011542996.1:c.1147C>T | XP_011541298.1:p.Arg383Trp | |
| XM_011542997.1:c.1072C>T | XP_011541299.1:p.Arg358Trp | |
| XR_947863.1:n.1759C>T | ||
| XR_947864.1:n.1583C>T | ||
| XR_947865.1:n.1583C>T | ||
| NM_001352409.1:c.1126C>T | NP_001339338.1:p.Arg376Trp | |
| NM_001352410.1:c.1126C>T | NP_001339339.1:p.Arg376Trp | |
| NM_001352411.1:c.1126C>T | NP_001339340.1:p.Arg376Trp | |
| NM_001352412.1:c.1126C>T | NP_001339341.1:p.Arg376Trp | |
| NM_001352413.1:c.1147C>T | NP_001339342.1:p.Arg383Trp | |
| NM_001352414.1:c.1147C>T | NP_001339343.1:p.Arg383Trp | |
| NM_001352415.1:c.1126C>T | NP_001339344.1:p.Arg376Trp | |
| NM_001352416.1:c.1126C>T | NP_001339345.1:p.Arg376Trp | |
| NM_001352417.1:c.1639C>T | NP_001339346.1:p.Arg547Trp | |
| NM_001352418.1:c.1516C>T | NP_001339347.1:p.Arg506Trp | |
| NM_001352419.1:c.1147C>T | NP_001339348.1:p.Arg383Trp | |
| NM_001352420.1:c.1126C>T | NP_001339349.1:p.Arg376Trp | |
| NM_001352421.1:c.1126C>T | NP_001339350.1:p.Arg376Trp | |
| NM_001352422.1:c.1051C>T | NP_001339351.1:p.Arg351Trp | |
| NM_001352423.1:c.1003C>T | NP_001339352.1:p.Arg335Trp | |
| NR_147984.1:n.2036C>T | ||
| XM_005277723.5:c.1660C>T | XP_005277780.1:p.Arg554Trp | |
| XM_006718913.3:c.1660C>T | XP_006718976.1:p.Arg554Trp | |
| XM_011542992.2:c.1660C>T | XP_011541294.1:p.Arg554Trp | |
| XM_017018313.2:c.1639C>T | XP_016873802.1:p.Arg547Trp | |
| XM_017018314.2:c.1537C>T | XP_016873803.1:p.Arg513Trp | |
| XM_024448695.1:c.1639C>T | XP_024304463.1:p.Arg547Trp | |
| XR_001747967.2:n.1748C>T | ||
| XR_001747968.2:n.1727C>T | ||
| XR_001747969.2:n.1625C>T | ||
| XR_001747970.2:n.1727C>T | ||
| XR_001747971.1:n.2056C>T | ||
| XR_001747972.1:n.2060C>T | ||
| XR_001747973.1:n.1763C>T | ||
| XR_001747974.1:n.1876C>T | ||
| XR_001747975.1:n.2035C>T | ||
| XR_001747976.1:n.2039C>T | ||
| XR_001747977.1:n.1212C>T | ||
| XR_001747979.1:n.2015C>T | ||
| XR_001747980.1:n.1711C>T | ||
| XR_947863.3:n.1748C>T | ||
| XR_947864.2:n.1572C>T | ||
| XR_947865.2:n.1572C>T | ||
| NM_001077691.2:c.1147C>T | NP_001071159.1:p.Arg383Trp | |
| NM_001077692.2:c.1126C>T | NP_001071160.1:p.Arg376Trp | |
| NM_001352411.2:c.1126C>T | NP_001339340.1:p.Arg376Trp | |
| NM_001352412.2:c.1126C>T | NP_001339341.1:p.Arg376Trp | |
| NM_001352414.2:c.1147C>T | NP_001339343.1:p.Arg383Trp | |
| NM_001352420.2:c.1126C>T | NP_001339349.1:p.Arg376Trp | |
| NM_001352421.2:c.1126C>T | NP_001339350.1:p.Arg376Trp | |
| NM_001352422.2:c.1051C>T | NP_001339351.1:p.Arg351Trp | |
| NM_001352423.2:c.1003C>T | NP_001339352.1:p.Arg335Trp | |
| NR_147984.2:n.2056C>T |