Revel Score:
ENST00000352241 (MANE Select)
0.672
ENST00000448226
0.672
ENST00000433517
0.672
ENST00000472437
0.672
ENST00000328528
0.672
ENST00000451708
0.672
ENST00000314589
0.672
ENST00000394355
0.672
ENST00000314557
0.672
ENST00000394351 (MANE Plus Clinical)
0.672
ENST00000531774
0.672
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000366 (SAS)
Exomes Max Group AF
0.00000386 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.69941240A>G , CM000665.2:g.69941240A>G | GRCh38 |
| NC_000003.11:g.69990391A>G , CM000665.1:g.69990391A>G | GRCh37 |
| NC_000003.10:g.70073081A>G | NCBI36 |
| NG_011631.1:g.206759A>G , LRG_776:g.206759A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314589.11:c.623A>G | ENSP00000324443.5:p.Asp208Gly | |
| ENST00000687384.1:c.620A>G | ENSP00000510225.1:p.Asp207Gly | |
| ENST00000689390.1:n.845A>G | ||
| ENST00000693031.1:c.596A>G | ENSP00000509845.1:p.Asp199Gly | |
| ENST00000693549.1:c.623A>G | ENSP00000509358.1:p.Asp208Gly | |
| ENST00000314589.10:c.623A>G | ENSP00000324443.5:p.Asp208Gly | |
| ENST00000352241.9:c.671A>G MANE Select | ENSP00000295600.8:p.Asp224Gly | |
| ENST00000394351.9:c.350A>G MANE Plus Clinical | ENSP00000377880.3:p.Asp117Gly | |
| ENST00000448226.9:c.668A>G | ENSP00000391803.3:p.Asp223Gly | |
| ENST00000642352.1:c.671A>G | ENSP00000494105.1:p.Asp224Gly | |
| ENST00000314557.10:c.350A>G | ENSP00000324246.6:p.Asp117Gly | |
| ENST00000314589.9:c.623A>G | ENSP00000324443.5:p.Asp208Gly | |
| ENST00000328528.10:c.668A>G | ENSP00000327867.6:p.Asp223Gly | |
| ENST00000352241.8:c.671A>G | ENSP00000295600.7:p.Asp224Gly | |
| ENST00000394351.7:c.350A>G | ENSP00000377880.3:p.Asp117Gly | |
| ENST00000433517.5:c.347A>G | ENSP00000411389.1:p.Asp116Gly | |
| ENST00000448226.6:c.671A>G | ENSP00000391803.2:p.Asp224Gly | |
| ENST00000451708.5:c.623A>G | ENSP00000398639.1:p.Asp208Gly | |
| ENST00000461014.1:n.661A>G | ||
| ENST00000472437.5:c.515A>G | ENSP00000418845.1:p.Asp172Gly | |
| ENST00000478490.5:c.315A>G | ENSP00000433487.1:p.Gly105= | |
| ENST00000531774.1:c.182A>G | ENSP00000435909.1:p.Asp61Gly | |
| NM_000248.3:c.350A>G , LRG_776t1:c.350A>G | NP_000239.1:p.Asp117Gly | |
| NM_001184967.1:c.515A>G | NP_001171896.1:p.Asp172Gly | |
| NM_006722.2:c.668A>G | NP_006713.1:p.Asp223Gly | |
| NM_198158.2:c.350A>G | NP_937801.1:p.Asp117Gly | |
| NM_198159.2:c.671A>G | NP_937802.1:p.Asp224Gly | |
| NM_198177.2:c.623A>G | NP_937820.1:p.Asp208Gly | |
| NM_198178.2:c.182A>G | NP_937821.2:p.Asp61Gly | |
| XM_005264754.1:c.671A>G | XP_005264811.1:p.Asp224Gly | |
| XM_005264755.2:c.623A>G | XP_005264812.1:p.Asp208Gly | |
| XM_006713164.2:c.515A>G | XP_006713227.1:p.Asp172Gly | |
| XM_011533722.1:c.668A>G | XP_011532024.1:p.Asp223Gly | |
| XM_011533723.1:c.620A>G | XP_011532025.1:p.Asp207Gly | |
| XM_011533724.1:c.515A>G | XP_011532026.1:p.Asp172Gly | |
| XM_011533725.1:c.503A>G | XP_011532027.1:p.Asp168Gly | |
| XM_011533726.1:c.503A>G | XP_011532028.1:p.Asp168Gly | |
| NM_001354604.1:c.671A>G | NP_001341533.1:p.Asp224Gly | |
| NM_001354605.1:c.668A>G | NP_001341534.1:p.Asp223Gly | |
| NM_001354606.1:c.668A>G | NP_001341535.1:p.Asp223Gly | |
| NM_001354607.1:c.620A>G | NP_001341536.1:p.Asp207Gly | |
| NM_001354608.1:c.515A>G | NP_001341537.1:p.Asp172Gly | |
| NM_001184967.2:c.515A>G | NP_001171896.1:p.Asp172Gly | |
| NM_001354604.2:c.671A>G MANE Select | NP_001341533.1:p.Asp224Gly | |
| NM_001354605.2:c.668A>G | NP_001341534.1:p.Asp223Gly | |
| NM_001354606.2:c.668A>G | NP_001341535.1:p.Asp223Gly | |
| NM_001354607.2:c.620A>G | NP_001341536.1:p.Asp207Gly | |
| NM_001354608.2:c.515A>G | NP_001341537.1:p.Asp172Gly | |
| NM_198158.3:c.350A>G | NP_937801.1:p.Asp117Gly | |
| NM_198159.3:c.671A>G | NP_937802.1:p.Asp224Gly | |
| NM_198177.3:c.623A>G | NP_937820.1:p.Asp208Gly | |
| NM_198178.3:c.182A>G | NP_937821.2:p.Asp61Gly | |
| NM_000248.4:c.350A>G MANE Plus Clinical | NP_000239.1:p.Asp117Gly | |
| NM_006722.3:c.668A>G | NP_006713.1:p.Asp223Gly |