Revel Score:
ENST00000441879
0.976
ENST00000419333
0.976
ENST00000292823
0.976
ENST00000416798
0.976
ENST00000431016 (MANE Select)
0.976
ENST00000411591
0.976
ENST00000430755
0.976
ENST00000412869
0.976
ENST00000443555
0.976
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001108 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00000853 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.196248245G>A , CM000665.2:g.196248245G>A | GRCh38 |
| NC_000003.11:g.195975116G>A , CM000665.1:g.195975116G>A | GRCh37 |
| NC_000003.10:g.197459513G>A | NCBI36 |
| NG_042817.1:g.44508C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000431016.6:c.296C>T MANE Select | ENSP00000394617.1:p.Ala99Val | |
| ENST00000292823.6:c.296C>T | ENSP00000292823.2:p.Ala99Val | |
| ENST00000411591.5:c.296C>T | ENSP00000400430.1:p.Ala99Val | |
| ENST00000412869.5:c.296C>T | ENSP00000402015.1:p.Ala99Val | |
| ENST00000419333.5:c.296C>T | ENSP00000390968.1:p.Ala99Val | |
| ENST00000430755.5:c.98C>T | ENSP00000402283.1:p.Ala33Val | |
| ENST00000431016.5:c.296C>T | ENSP00000394617.1:p.Ala99Val | |
| ENST00000431391.1:c.*302C>T | ENSP00000405181.1:n.*302C>T | |
| ENST00000438634.5:c.*109C>T | ENSP00000391405.1:n.*109C>T | |
| ENST00000441879.5:c.296C>T | ENSP00000392397.1:p.Ala99Val | |
| ENST00000443555.1:c.296C>T | ENSP00000393341.1:p.Ala99Val | |
| ENST00000444822.5:c.296C>T | ENSP00000397888.1:p.Ala99Val | |
| ENST00000460677.5:n.444C>T | ||
| ENST00000473978.5:n.449C>T | ||
| ENST00000488235.1:n.29C>T | ||
| ENST00000491544.1:n.355C>T | ||
| NM_001312673.1:c.296C>T | NP_001299602.1:p.Ala99Val | |
| NM_005017.2:c.296C>T | NP_005008.2:p.Ala99Val | |
| NM_005017.3:c.296C>T | NP_005008.2:p.Ala99Val | |
| NM_001312673.2:c.296C>T MANE Select | NP_001299602.1:p.Ala99Val | |
| NM_005017.4:c.296C>T | NP_005008.2:p.Ala99Val |