Revel Score:
ENST00000441879
0.980
ENST00000419333
0.980
ENST00000292823
0.980
ENST00000416798
0.980
ENST00000431016 (MANE Select)
0.980
ENST00000411591
0.980
ENST00000430755
0.980
ENST00000412869
0.980
ENST00000443555
0.980
gnomAD v4:
Joint Max Group AF
0.00000689 (NFE)
Exomes Max Group AF
0.00000731 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.196248246C>T , CM000665.2:g.196248246C>T | GRCh38 |
| NC_000003.11:g.195975117C>T , CM000665.1:g.195975117C>T | GRCh37 |
| NC_000003.10:g.197459514C>T | NCBI36 |
| NG_042817.1:g.44507G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000431016.6:c.295G>A MANE Select | ENSP00000394617.1:p.Ala99Thr | |
| ENST00000292823.6:c.295G>A | ENSP00000292823.2:p.Ala99Thr | |
| ENST00000411591.5:c.295G>A | ENSP00000400430.1:p.Ala99Thr | |
| ENST00000412869.5:c.295G>A | ENSP00000402015.1:p.Ala99Thr | |
| ENST00000419333.5:c.295G>A | ENSP00000390968.1:p.Ala99Thr | |
| ENST00000430755.5:c.97G>A | ENSP00000402283.1:p.Ala33Thr | |
| ENST00000431016.5:c.295G>A | ENSP00000394617.1:p.Ala99Thr | |
| ENST00000431391.1:c.*301G>A | ENSP00000405181.1:n.*301G>A | |
| ENST00000438634.5:c.*108G>A | ENSP00000391405.1:n.*108G>A | |
| ENST00000441879.5:c.295G>A | ENSP00000392397.1:p.Ala99Thr | |
| ENST00000443555.1:c.295G>A | ENSP00000393341.1:p.Ala99Thr | |
| ENST00000444822.5:c.295G>A | ENSP00000397888.1:p.Ala99Thr | |
| ENST00000460677.5:n.443G>A | ||
| ENST00000473978.5:n.448G>A | ||
| ENST00000488235.1:n.28G>A | ||
| ENST00000491544.1:n.354G>A | ||
| NM_001312673.1:c.295G>A | NP_001299602.1:p.Ala99Thr | |
| NM_005017.2:c.295G>A | NP_005008.2:p.Ala99Thr | |
| NM_005017.3:c.295G>A | NP_005008.2:p.Ala99Thr | |
| NM_001312673.2:c.295G>A MANE Select | NP_001299602.1:p.Ala99Thr | |
| NM_005017.4:c.295G>A | NP_005008.2:p.Ala99Thr |