Revel Score:
ENST00000441879
0.962
ENST00000419333
0.962
ENST00000292823
0.962
ENST00000416798
0.962
ENST00000431016 (MANE Select)
0.962
ENST00000411591
0.962
ENST00000430755
0.962
ENST00000412869
0.962
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.000005 (NFE)
Exomes Max Group AF
0.00000531 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.196247479G>A , CM000665.2:g.196247479G>A | GRCh38 |
| NC_000003.11:g.195974350G>A , CM000665.1:g.195974350G>A | GRCh37 |
| NC_000003.10:g.197458747G>A | NCBI36 |
| NG_042817.1:g.45274C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000431016.6:c.374C>T MANE Select | ENSP00000394617.1:p.Thr125Met | |
| ENST00000292823.6:c.374C>T | ENSP00000292823.2:p.Thr125Met | |
| ENST00000411591.5:c.374C>T | ENSP00000400430.1:p.Thr125Met | |
| ENST00000412869.5:c.374C>T | ENSP00000402015.1:p.Thr125Met | |
| ENST00000419333.5:c.374C>T | ENSP00000390968.1:p.Thr125Met | |
| ENST00000430755.5:c.176C>T | ENSP00000402283.1:p.Thr59Met | |
| ENST00000431016.5:c.374C>T | ENSP00000394617.1:p.Thr125Met | |
| ENST00000438634.5:c.*187C>T | ENSP00000391405.1:n.*187C>T | |
| ENST00000441879.5:c.374C>T | ENSP00000392397.1:p.Thr125Met | |
| ENST00000444822.5:c.*94C>T | ENSP00000397888.1:n.*94C>T | |
| ENST00000460677.5:n.1210C>T | ||
| ENST00000473978.5:n.1215C>T | ||
| ENST00000488235.1:n.107C>T | ||
| ENST00000491544.1:n.577C>T | ||
| NM_001312673.1:c.374C>T | NP_001299602.1:p.Thr125Met | |
| NM_005017.2:c.374C>T | NP_005008.2:p.Thr125Met | |
| NM_005017.3:c.374C>T | NP_005008.2:p.Thr125Met | |
| NM_001312673.2:c.374C>T MANE Select | NP_001299602.1:p.Thr125Met | |
| NM_005017.4:c.374C>T | NP_005008.2:p.Thr125Met |