Revel Score:
ENST00000373827
0.142
ENST00000373820
0.142
ENST00000355288
0.142
ENST00000423532
0.142
ENST00000503366
0.142
ENST00000395299
0.142
ENST00000373817
0.142
ENST00000514197
0.090
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000763 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00000652 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.60059865C>T , CM000672.2:g.60059865C>T | GRCh38 |
| NC_000010.10:g.61819623C>T , CM000672.1:g.61819623C>T | GRCh37 |
| NC_000010.9:g.61489629C>T | NCBI36 |
| NG_029917.1:g.678662G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000467420.7:c.4841-435G>A | ENSP00000423968.2:n.4841-435G>A | |
| ENST00000503366.6:c.4901G>A | ENSP00000425236.1:p.Gly1634Glu | |
| ENST00000280772.7:c.12596-435G>A MANE Select | ENSP00000280772.1:n.12596-435G>A | |
| ENST00000280772.6:c.12596-435G>A | ENSP00000280772.1:n.12596-435G>A | |
| ENST00000355288.6:c.2300G>A | ENSP00000347436.2:p.Gly767Glu | |
| ENST00000373820.5:c.674G>A | ENSP00000362926.1:p.Gly225Glu | |
| ENST00000373827.6:c.4880G>A | ENSP00000362933.2:p.Gly1627Glu | |
| ENST00000503366.5:c.4901G>A | ENSP00000425236.1:p.Gly1634Glu | |
| ENST00000511043.5:c.436-39G>A | ||
| ENST00000514197.5:c.445G>A | ||
| ENST00000610321.4:c.4392-435G>A | ||
| ENST00000610901.4:c.838-435G>A | ||
| ENST00000616444.4:c.1716G>A | ||
| ENST00000618374.4:c.2300G>A | ENSP00000479018.1:p.Gly767Glu | |
| NM_001149.3:c.2300G>A | NP_001140.2:p.Gly767Glu | |
| NM_001204403.1:c.4880G>A | NP_001191332.1:p.Gly1627Glu | |
| NM_001204404.1:c.4901G>A | NP_001191333.1:p.Gly1634Glu | |
| NM_020987.3:c.12596-435G>A | NP_066267.2:n.12596-435G>A | |
| XM_005269715.2:c.4952G>A | XP_005269772.1:p.Gly1651Glu | |
| XM_005269716.2:c.4898G>A | XP_005269773.1:p.Gly1633Glu | |
| XM_006717791.2:c.7574G>A | XP_006717854.1:p.Gly2525Glu | |
| XM_006717793.2:c.7574G>A | XP_006717856.1:p.Gly2525Glu | |
| XM_006717795.2:c.7574G>A | XP_006717858.1:p.Gly2525Glu | |
| XM_006717796.2:c.7574G>A | XP_006717859.1:p.Gly2525Glu | |
| XM_006717802.2:c.4991G>A | XP_006717865.1:p.Gly1664Glu | |
| XM_011539700.1:c.7562G>A | XP_011538002.1:p.Gly2521Glu | |
| XM_011539701.1:c.7556G>A | XP_011538003.1:p.Gly2519Glu | |
| XM_011539702.1:c.7517G>A | XP_011538004.1:p.Gly2506Glu | |
| XM_011539703.1:c.7496G>A | XP_011538005.1:p.Gly2499Glu | |
| XM_011539704.1:c.7475G>A | XP_011538006.1:p.Gly2492Glu | |
| XM_011539705.1:c.7475G>A | XP_011538007.1:p.Gly2492Glu | |
| XM_011539706.1:c.7463G>A | XP_011538008.1:p.Gly2488Glu | |
| XM_011539707.1:c.7574G>A | XP_011538009.1:p.Gly2525Glu | |
| XM_011539708.1:c.7574G>A | XP_011538010.1:p.Gly2525Glu | |
| XM_011539709.1:c.7433-435G>A | XP_011538011.1:n.7433-435G>A | |
| XM_011539710.1:c.4991G>A | XP_011538012.1:p.Gly1664Glu | |
| XM_011539711.1:c.4964G>A | XP_011538013.1:p.Gly1655Glu | |
| XM_011539712.1:c.4955G>A | XP_011538014.1:p.Gly1652Glu | |
| XM_011539713.1:c.4928G>A | XP_011538015.1:p.Gly1643Glu | |
| XM_011539714.1:c.4922G>A | XP_011538016.1:p.Gly1641Glu | |
| XM_011539715.1:c.4910G>A | XP_011538017.1:p.Gly1637Glu | |
| XM_011539716.1:c.4823-39G>A | XP_011538018.1:n.4823-39G>A | |
| XM_011539717.1:c.4811-435G>A | XP_011538019.1:n.4811-435G>A | |
| XM_011539718.1:c.4694-435G>A | XP_011538020.1:n.4694-435G>A | |
| NM_001320874.1:c.4898G>A | NP_001307803.1:p.Gly1633Glu | |
| NM_020987.4:c.12596-435G>A | NP_066267.2:n.12596-435G>A | |
| XM_005269715.3:c.4952G>A | XP_005269772.1:p.Gly1651Glu | |
| XM_006717796.3:c.7574G>A | XP_006717859.1:p.Gly2525Glu | |
| XM_006717802.3:c.4991G>A | XP_006717865.1:p.Gly1664Glu | |
| XM_011539708.2:c.7574G>A | XP_011538010.1:p.Gly2525Glu | |
| XM_011539709.2:c.7433-435G>A | XP_011538011.1:n.7433-435G>A | |
| XM_017016110.1:c.12809G>A | XP_016871599.1:p.Gly4270Glu | |
| XM_017016111.1:c.12797G>A | XP_016871600.1:p.Gly4266Glu | |
| XM_017016112.1:c.12794G>A | XP_016871601.1:p.Gly4265Glu | |
| XM_017016113.1:c.12782G>A | XP_016871602.1:p.Gly4261Glu | |
| XM_017016114.1:c.12758G>A | XP_016871603.1:p.Gly4253Glu | |
| XM_017016115.1:c.12731G>A | XP_016871604.1:p.Gly4244Glu | |
| XM_017016116.1:c.12668-435G>A | XP_016871605.1:n.12668-435G>A | |
| XM_017016117.1:c.12668-435G>A | XP_016871606.1:n.12668-435G>A | |
| XM_017016118.1:c.11468G>A | XP_016871607.1:p.Gly3823Glu | |
| XM_017016119.1:c.11327-435G>A | XP_016871608.1:n.11327-435G>A | |
| XM_017016120.1:c.11327-435G>A | XP_016871609.1:n.11327-435G>A | |
| XM_017016121.1:c.11300-435G>A | XP_016871610.1:n.11300-435G>A | |
| XM_017016122.1:c.7481G>A | XP_016871611.1:p.Gly2494Glu | |
| XM_017016123.1:c.7433-435G>A | XP_016871612.1:n.7433-435G>A | |
| XM_017016124.1:c.7406-435G>A | XP_016871613.1:n.7406-435G>A | |
| XM_017016125.1:c.7406-435G>A | XP_016871614.1:n.7406-435G>A | |
| XM_017016126.1:c.7301-435G>A | XP_016871615.1:n.7301-435G>A | |
| XM_017016127.1:c.7274-435G>A | XP_016871616.1:n.7274-435G>A | |
| XM_017016128.1:c.4964G>A | XP_016871617.1:p.Gly1655Glu | |
| XM_017016129.1:c.4964G>A | XP_016871618.1:p.Gly1655Glu | |
| XM_017016130.1:c.4898G>A | XP_016871619.1:p.Gly1633Glu | |
| XM_017016131.1:c.4883G>A | XP_016871620.1:p.Gly1628Glu | |
| XM_017016132.1:c.4862G>A | XP_016871621.1:p.Gly1621Glu | |
| XM_017016134.1:c.4832G>A | XP_016871623.1:p.Gly1611Glu | |
| XM_017016136.1:c.4850-435G>A | XP_016871625.1:n.4850-435G>A | |
| XM_017016137.1:c.4823-435G>A | XP_016871626.1:n.4823-435G>A | |
| XM_017016138.1:c.4823-435G>A | XP_016871627.1:n.4823-435G>A | |
| XM_017016141.1:c.4718-435G>A | XP_016871630.1:n.4718-435G>A | |
| XM_024447953.1:c.12782G>A | XP_024303721.1:p.Gly4261Glu | |
| XM_024447954.1:c.12755G>A | XP_024303722.1:p.Gly4252Glu | |
| XM_024447955.1:c.12746G>A | XP_024303723.1:p.Gly4249Glu | |
| XM_024447956.1:c.12743G>A | XP_024303724.1:p.Gly4248Glu | |
| XM_024447957.1:c.12710G>A | XP_024303725.1:p.Gly4237Glu | |
| XM_024447958.1:c.12692G>A | XP_024303726.1:p.Gly4231Glu | |
| XM_024447959.1:c.12692G>A | XP_024303727.1:p.Gly4231Glu | |
| XM_024447960.1:c.12680G>A | XP_024303728.1:p.Gly4227Glu | |
| XM_024447961.1:c.12677G>A | XP_024303729.1:p.Gly4226Glu | |
| XM_024447962.1:c.11441G>A | XP_024303730.1:p.Gly3814Glu | |
| XM_024447963.1:c.7574G>A | XP_024303731.1:p.Gly2525Glu | |
| XM_024447964.1:c.4928G>A | XP_024303732.1:p.Gly1643Glu | |
| XM_024447965.1:c.4955G>A | XP_024303733.1:p.Gly1652Glu | |
| NM_020987.5:c.12596-435G>A MANE Select | NP_066267.2:n.12596-435G>A | |
| NM_001204403.2:c.4880G>A | NP_001191332.1:p.Gly1627Glu | |
| NM_001204404.2:c.4901G>A | NP_001191333.1:p.Gly1634Glu | |
| NM_001320874.2:c.4898G>A | NP_001307803.1:p.Gly1633Glu | |
| NM_001149.4:c.2300G>A | NP_001140.2:p.Gly767Glu |