Revel Score:
ENST00000529984
0.162
ENST00000528332
0.162
ENST00000488731
0.162
ENST00000372104
0.645
ENST00000448481
0.645
ENST00000456914 (MANE Select)
0.645
ENST00000354383
0.645
ENST00000355498
0.645
ENST00000372098
0.645
ENST00000372110
0.645
ENST00000372115
0.645
ENST00000450313
0.645
ENST00000372100
0.645
ENST00000525481
0.645
ENST00000412971
0.645
ENST00000435155
0.645
ENST00000528013
0.645
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45332789G>C , CM000663.2:g.45332789G>C | GRCh38 |
| NC_000001.10:g.45798461G>C , CM000663.1:g.45798461G>C | GRCh37 |
| NC_000001.9:g.45571048G>C | NCBI36 |
| NG_008189.1:g.12682C>G , LRG_220:g.12682C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412971.6:c.82C>G | ENSP00000410263.2:p.Arg28Gly | |
| ENST00000435155.2:c.499C>G | ENSP00000403655.2:p.Arg167Gly | |
| ENST00000467459.6:c.466C>G | ENSP00000435889.2:p.Arg156Gly | |
| ENST00000483127.2:c.484C>G | ENSP00000436469.2:p.Arg162Gly | |
| ENST00000485271.6:c.466C>G | ENSP00000431264.2:p.Arg156Gly | |
| ENST00000529892.6:c.508C>G | ENSP00000432528.2:p.Arg170Gly | |
| ENST00000533178.6:c.116-102C>G | ENSP00000436430.2:n.116-102C>G | |
| ENST00000672314.2:c.466C>G | ENSP00000500828.2:p.Arg156Gly | |
| ENST00000674679.2:c.*378C>G | ENSP00000501623.2:n.*378C>G | |
| ENST00000710952.2:c.550C>G MANE Plus Clinical | ENSP00000518552.2:p.Arg184Gly | |
| ENST00000672818.3:c.541C>G | ENSP00000500891.1:p.Arg181Gly | |
| ENST00000450313.6:c.476C>G | ENSP00000408176.2:p.Pro159Arg | |
| ENST00000456914.7:c.466C>G MANE Select | ENSP00000407590.2:p.Arg156Gly | |
| ENST00000461495.6:c.*205C>G | ENSP00000437166.1:n.*205C>G | |
| ENST00000671856.1:n.412C>G | ||
| ENST00000671898.1:c.1054C>G | ENSP00000499896.1:p.Arg352Gly | |
| ENST00000672011.1:c.434C>G | ENSP00000500418.1:p.Pro145Arg | |
| ENST00000672314.1:c.466C>G | ENSP00000500828.1:p.Arg156Gly | |
| ENST00000672593.1:c.*279C>G | ENSP00000500455.1:n.*279C>G | |
| ENST00000672764.1:c.425C>G | ENSP00000500886.1:p.Pro142Arg | |
| ENST00000672818.2:c.541C>G | ENSP00000500891.1:p.Arg181Gly | |
| ENST00000673134.1:c.*163C>G | ENSP00000500526.1:n.*163C>G | |
| ENST00000674679.1:c.494C>G | ENSP00000501623.1:n.494C>G | |
| ENST00000354383.10:c.469C>G | ENSP00000346354.6:p.Arg157Gly | |
| ENST00000355498.6:c.466C>G | ENSP00000347685.2:p.Arg156Gly | |
| ENST00000372098.7:c.541C>G | ENSP00000361170.3:p.Arg181Gly | |
| ENST00000372104.5:c.466C>G | ENSP00000361176.1:p.Arg156Gly | |
| ENST00000372110.7:c.511C>G | ENSP00000361182.3:p.Arg171Gly | |
| ENST00000372115.7:c.508C>G | ENSP00000361187.3:p.Arg170Gly | |
| ENST00000412971.5:c.82C>G | ENSP00000410263.1:p.Arg28Gly | |
| ENST00000435155.1:c.499C>G | ENSP00000403655.1:p.Arg167Gly | |
| ENST00000448481.5:c.499C>G | ENSP00000409718.1:p.Arg167Gly | |
| ENST00000450313.5:c.550C>G | ENSP00000408176.1:p.Arg184Gly | |
| ENST00000456914.6:c.466C>G | ENSP00000407590.2:p.Arg156Gly | |
| ENST00000461495.5:c.*205C>G | ENSP00000437166.1:n.*205C>G | |
| ENST00000462388.5:n.157C>G | ||
| ENST00000467940.5:c.*389C>G | ENSP00000436478.1:n.*389C>G | |
| ENST00000470256.5:c.353C>G | ENSP00000434985.1:p.Pro118Arg | |
| ENST00000475516.5:c.*279C>G | ENSP00000433843.1:n.*279C>G | |
| ENST00000476789.5:n.906C>G | ||
| ENST00000478796.5:n.453C>G | ||
| ENST00000479746.6:n.749C>G | ||
| ENST00000481139.5:n.939C>G | ||
| ENST00000481571.5:c.*279C>G | ENSP00000436597.1:n.*279C>G | |
| ENST00000483642.5:n.981C>G | ||
| ENST00000485484.5:n.767C>G | ||
| ENST00000488731.6:c.161C>G | ENSP00000432330.1:p.Pro54Arg | |
| ENST00000492494.5:n.863C>G | ||
| ENST00000525160.5:c.*117C>G | ENSP00000431568.1:n.*117C>G | |
| ENST00000528013.6:c.508C>G | ENSP00000433130.2:p.Arg170Gly | |
| ENST00000529984.5:c.161C>G | ENSP00000437093.1:p.Pro54Arg | |
| ENST00000531105.5:c.115+1602C>G | ENSP00000431292.1:n.115+1602C>G | |
| ENST00000533178.5:c.122-102C>G | ENSP00000436430.1:n.122-102C>G | |
| NM_001048171.1:c.508C>G | NP_001041636.1:p.Arg170Gly | |
| NM_001048172.1:c.469C>G | NP_001041637.1:p.Arg157Gly | |
| NM_001048173.1:c.466C>G | NP_001041638.1:p.Arg156Gly | |
| NM_001048174.1:c.466C>G | NP_001041639.1:p.Arg156Gly | |
| NM_001128425.1:c.550C>G , LRG_220t1:c.550C>G | NP_001121897.1:p.Arg184Gly | |
| NM_001293190.1:c.511C>G | NP_001280119.1:p.Arg171Gly | |
| NM_001293191.1:c.499C>G | NP_001280120.1:p.Arg167Gly | |
| NM_001293192.1:c.190C>G | NP_001280121.1:p.Arg64Gly | |
| NM_001293195.1:c.466C>G | NP_001280124.1:p.Arg156Gly | |
| NM_001293196.1:c.190C>G | NP_001280125.1:p.Arg64Gly | |
| NM_012222.2:c.541C>G | NP_036354.1:p.Arg181Gly | |
| XM_011541497.1:c.526C>G | XP_011539799.1:p.Arg176Gly | |
| XM_011541498.1:c.508C>G | XP_011539800.1:p.Arg170Gly | |
| XM_011541499.1:c.508C>G | XP_011539801.1:p.Arg170Gly | |
| XM_011541500.1:c.508C>G | XP_011539802.1:p.Arg170Gly | |
| XM_011541501.1:c.508C>G | XP_011539803.1:p.Arg170Gly | |
| XM_011541502.1:c.508C>G | XP_011539804.1:p.Arg170Gly | |
| XM_011541503.1:c.508C>G | XP_011539805.1:p.Arg170Gly | |
| XM_011541504.1:c.499C>G | XP_011539806.1:p.Arg167Gly | |
| XM_011541505.1:c.88C>G | XP_011539807.1:p.Arg30Gly | |
| XM_011541506.1:c.88C>G | XP_011539808.1:p.Arg30Gly | |
| XM_011541507.1:c.79C>G | XP_011539809.1:p.Arg27Gly | |
| XM_011541508.1:c.94C>G | XP_011539810.1:p.Arg32Gly | |
| XR_946658.1:n.597C>G | ||
| NM_001350650.1:c.121C>G | NP_001337579.1:p.Arg41Gly | |
| NM_001350651.1:c.121C>G | NP_001337580.1:p.Arg41Gly | |
| NR_146882.1:n.724C>G | ||
| NR_146883.1:n.538C>G | ||
| XM_011541497.3:c.526C>G | XP_011539799.1:p.Arg176Gly | |
| XM_011541500.3:c.508C>G | XP_011539802.1:p.Arg170Gly | |
| XM_011541501.2:c.508C>G | XP_011539803.1:p.Arg170Gly | |
| XM_011541502.2:c.508C>G | XP_011539804.1:p.Arg170Gly | |
| XM_011541503.2:c.508C>G | XP_011539805.1:p.Arg170Gly | |
| XM_011541504.2:c.499C>G | XP_011539806.1:p.Arg167Gly | |
| XM_011541505.2:c.88C>G | XP_011539807.1:p.Arg30Gly | |
| XM_011541506.2:c.88C>G | XP_011539808.1:p.Arg30Gly | |
| XM_017001331.1:c.508C>G | XP_016856820.1:p.Arg170Gly | |
| XM_017001332.1:c.508C>G | XP_016856821.1:p.Arg170Gly | |
| XM_017001333.1:c.508C>G | XP_016856822.1:p.Arg170Gly | |
| XM_017001334.1:c.469C>G | XP_016856823.1:p.Arg157Gly | |
| XM_017001335.1:c.190C>G | XP_016856824.1:p.Arg64Gly | |
| XM_017001336.1:c.121C>G | XP_016856825.1:p.Arg41Gly | |
| XM_017001337.1:c.121C>G | XP_016856826.1:p.Arg41Gly | |
| XM_024447244.1:c.121C>G | XP_024303012.1:p.Arg41Gly | |
| XM_024447245.1:c.121C>G | XP_024303013.1:p.Arg41Gly | |
| XM_024447248.1:c.79C>G | XP_024303016.1:p.Arg27Gly | |
| XM_024447249.1:c.-51C>G | XP_024303017.1:n.-51C>G | |
| XM_024447250.1:c.-51C>G | XP_024303018.1:n.-51C>G | |
| XM_024447251.1:c.-51C>G | XP_024303019.1:n.-51C>G | |
| XR_001737190.1:n.511C>G | ||
| XR_001737192.1:n.323C>G | ||
| XR_002956643.1:n.503C>G | ||
| XR_002956644.1:n.1038C>G | ||
| XR_946658.2:n.611C>G | ||
| NM_001048171.2:c.466C>G | NP_001041636.2:p.Arg156Gly | |
| NM_001128425.2:c.550C>G MANE Plus Clinical | NP_001121897.1:p.Arg184Gly | |
| NM_001048172.2:c.469C>G | NP_001041637.1:p.Arg157Gly | |
| NM_001048173.2:c.466C>G | NP_001041638.1:p.Arg156Gly | |
| NM_001048174.2:c.466C>G MANE Select | NP_001041639.1:p.Arg156Gly | |
| NM_001293190.2:c.511C>G | NP_001280119.1:p.Arg171Gly | |
| NM_001293191.2:c.499C>G | NP_001280120.1:p.Arg167Gly | |
| NM_001293192.2:c.190C>G | NP_001280121.1:p.Arg64Gly | |
| NM_001293195.2:c.466C>G | NP_001280124.1:p.Arg156Gly | |
| NM_001293196.2:c.190C>G | NP_001280125.1:p.Arg64Gly | |
| NM_001350650.2:c.121C>G | NP_001337579.1:p.Arg41Gly | |
| NM_001350651.2:c.121C>G | NP_001337580.1:p.Arg41Gly | |
| NM_012222.3:c.541C>G | NP_036354.1:p.Arg181Gly | |
| NR_146882.2:n.694C>G | ||
| NR_146883.2:n.543C>G |