ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v4:
Joint Max Group AF
0.00000739 (EAS)
Exomes Max Group AF
0.00000835 (EAS)
Revel Score:
ENST00000395248
0.834
ENST00000338110
0.834
ENST00000412304
0.834
ENST00000395240
0.834
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30069384G>A , CM000678.2:g.30069384G>A | GRCh38 |
| NC_000016.9:g.30080705G>A , CM000678.1:g.30080705G>A | GRCh37 |
| NC_000016.8:g.29988206G>A | NCBI36 |
| NG_008010.1:g.21215G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338110.11:c.*1128G>A | ENSP00000336927.6:n.*1128G>A | |
| ENST00000338110.10:c.*1128G>A | ENSP00000336927.6:n.*1128G>A | |
| ENST00000395248.6:c.*801G>A | ENSP00000378669.2:n.*801G>A | |
| ENST00000566897.6:c.*1128G>A | ENSP00000455724.2:n.*1128G>A | |
| ENST00000642816.3:c.781G>A MANE Select | ENSP00000496166.1:p.Glu261Lys | |
| ENST00000643777.4:c.619G>A | ENSP00000494188.2:p.Glu207Lys | |
| ENST00000338110.9:c.619G>A | ENSP00000336927.5:p.Glu207Lys | |
| ENST00000395240.7:c.631G>A | ENSP00000378661.3:p.Glu211Lys | |
| ENST00000395248.5:c.781G>A | ENSP00000378669.1:p.Glu261Lys | |
| ENST00000412304.6:c.619G>A | ENSP00000400452.2:p.Glu207Lys | |
| ENST00000562679.5:c.781G>A | ENSP00000455455.1:p.Glu261Lys | |
| ENST00000563060.6:c.619G>A | ENSP00000455800.2:p.Glu207Lys | |
| ENST00000564521.6:n.1813G>A | ||
| ENST00000564546.5:c.619G>A | ENSP00000455917.1:p.Glu207Lys | |
| ENST00000564595.6:c.781G>A | ENSP00000457468.2:p.Glu261Lys | |
| ENST00000564688.1:c.376-115G>A | ENSP00000457514.1:n.376-115G>A | |
| ENST00000566130.1:n.123G>A | ||
| ENST00000566146.1:n.221G>A | ||
| ENST00000566897.5:c.619G>A | ENSP00000455724.1:p.Glu207Lys | |
| ENST00000569545.5:c.619G>A | ENSP00000455700.1:p.Glu207Lys | |
| ENST00000569798.5:c.619G>A | ENSP00000455857.1:p.Glu207Lys | |
| ENST00000627059.2:c.631G>A | ENSP00000485952.1:p.Glu211Lys | |
| NM_000034.3:c.619G>A | NP_000025.1:p.Glu207Lys | |
| NM_001127617.2:c.619G>A | NP_001121089.1:p.Glu207Lys | |
| NM_001243177.1:c.781G>A | NP_001230106.1:p.Glu261Lys | |
| NM_184041.2:c.619G>A | NP_908930.1:p.Glu207Lys | |
| NM_184043.2:c.619G>A | NP_908932.1:p.Glu207Lys | |
| XM_011545767.1:c.619G>A | XP_011544069.1:p.Glu207Lys | |
| XM_011545768.1:c.619G>A | XP_011544070.1:p.Glu207Lys | |
| NM_001243177.2:c.781G>A | NP_001230106.1:p.Glu261Lys | |
| NM_001365304.1:c.*1128G>A | NP_001352233.1:n.*1128G>A | |
| NM_001365305.1:c.*1128G>A | NP_001352234.1:n.*1128G>A | |
| NM_001365307.1:c.*1128G>A | NP_001352236.1:n.*1128G>A | |
| NM_184041.3:c.619G>A | NP_908930.1:p.Glu207Lys | |
| XM_024450192.1:c.619G>A | XP_024305960.1:p.Glu207Lys | |
| XM_024450193.1:c.619G>A | XP_024305961.1:p.Glu207Lys | |
| NM_001243177.3:c.781G>A | NP_001230106.1:p.Glu261Lys | |
| NM_001365307.2:c.*1128G>A | NP_001352236.1:n.*1128G>A | |
| NM_184041.4:c.619G>A | NP_908930.1:p.Glu207Lys | |
| NM_001243177.4:c.781G>A MANE Select | NP_001230106.1:p.Glu261Lys | |
| NM_001365304.2:c.*1128G>A | NP_001352233.1:n.*1128G>A | |
| NM_001365305.2:c.*1128G>A | NP_001352234.1:n.*1128G>A | |
| NM_184041.5:c.619G>A | NP_908930.1:p.Glu207Lys |