Revel Score:
ENST00000313010 (MANE Select)
0.124
ENST00000393399
0.124
ENST00000535099
0.124
ENST00000531801
0.124
ENST00000534631
0.124
ENST00000527444
0.124
ENST00000531128
0.124
ENST00000534396
0.124
ENST00000529671
0.124
ENST00000528082
0.124
ENST00000532809
0.124
ENST00000533126
0.124
ENST00000534264
0.124
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003941 (NFE)
Genomes Max Group AF
0.00003763 (NFE)
Exomes Max Group AF
0.00003721 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.82853252T>A , CM000673.2:g.82853252T>A | GRCh38 |
| NC_000011.9:g.82564294T>A , CM000673.1:g.82564294T>A | GRCh37 |
| NC_000011.8:g.82241942T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313010.8:c.336A>T MANE Select | ENSP00000317362.3:p.Glu112Asp | |
| ENST00000524642.6:n.364A>T | ||
| ENST00000527444.6:n.364A>T | ||
| ENST00000528082.6:c.-10A>T | ENSP00000435071.2:n.-10A>T | |
| ENST00000531283.2:n.364A>T | ||
| ENST00000531801.6:c.21A>T | ENSP00000432004.2:p.Glu7Asp | |
| ENST00000532809.2:c.174A>T | ENSP00000437169.2:p.Glu58Asp | |
| ENST00000534264.2:c.21A>T | ENSP00000436095.2:p.Glu7Asp | |
| ENST00000679387.1:c.21A>T | ENSP00000506058.1:p.Glu7Asp | |
| ENST00000679623.1:c.21A>T | ENSP00000506508.1:p.Glu7Asp | |
| ENST00000680437.1:c.309+6725A>T | ENSP00000505089.1:n.309+6725A>T | |
| ENST00000680524.1:c.-183-13827A>T | ENSP00000506464.1:n.-183-13827A>T | |
| ENST00000680566.1:c.21A>T | ENSP00000505064.1:p.Glu7Asp | |
| ENST00000681155.1:n.393A>T | ||
| ENST00000681322.1:c.336A>T | ENSP00000506444.1:p.Glu112Asp | |
| ENST00000681637.1:c.21A>T | ENSP00000506101.1:p.Glu7Asp | |
| ENST00000681781.1:n.189A>T | ||
| ENST00000681826.1:n.428A>T | ||
| ENST00000313010.7:c.336A>T | ENSP00000317362.3:p.Glu112Asp | |
| ENST00000393399.6:c.399A>T | ENSP00000377055.2:p.Glu133Asp | |
| ENST00000527444.5:c.21A>T | ENSP00000436141.1:p.Glu7Asp | |
| ENST00000528082.5:c.21A>T | ENSP00000435071.1:p.Glu7Asp | |
| ENST00000529671.5:c.213A>T | ENSP00000434771.1:p.Glu71Asp | |
| ENST00000531128.5:c.21A>T | ENSP00000431435.1:p.Glu7Asp | |
| ENST00000531801.5:c.21A>T | ENSP00000432004.1:p.Glu7Asp | |
| ENST00000532809.1:c.174A>T | ENSP00000437169.1:p.Glu58Asp | |
| ENST00000533126.1:c.21A>T | ENSP00000431496.1:p.Glu7Asp | |
| ENST00000534264.1:c.21A>T | ENSP00000436095.1:p.Glu7Asp | |
| ENST00000534396.5:c.21A>T | ENSP00000432506.1:p.Glu7Asp | |
| ENST00000534631.5:c.21A>T | ENSP00000431559.1:p.Glu7Asp | |
| NM_005040.2:c.336A>T | NP_005031.1:p.Glu112Asp | |
| NM_199418.2:c.399A>T | NP_955450.2:p.Glu133Asp | |
| XM_005274093.1:c.21A>T | XP_005274150.1:p.Glu7Asp | |
| NM_001319214.1:c.21A>T | NP_001306143.1:p.Glu7Asp | |
| NM_005040.3:c.336A>T | NP_005031.1:p.Glu112Asp | |
| NM_199418.3:c.399A>T | NP_955450.2:p.Glu133Asp | |
| NM_005040.4:c.336A>T MANE Select | NP_005031.1:p.Glu112Asp | |
| NM_001319214.2:c.21A>T | NP_001306143.1:p.Glu7Asp | |
| NM_199418.4:c.399A>T | NP_955450.2:p.Glu133Asp |