Revel Score:
ENST00000394236 (MANE Select)
0.962
ENST00000348974
0.962
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00006641 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00006696 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93927251G>A , CM000665.2:g.93927251G>A | GRCh38 |
| NC_000003.11:g.93646095G>A , CM000665.1:g.93646095G>A | GRCh37 |
| NC_000003.10:g.95128785G>A | NCBI36 |
| NG_009813.1:g.51840C>T , LRG_572:g.51840C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348974.5:c.233C>T | ENSP00000330021.7:p.Thr78Met | |
| ENST00000394236.9:c.233C>T MANE Select | ENSP00000377783.3:p.Thr78Met | |
| ENST00000407433.6:c.233C>T | ENSP00000385794.2:p.Thr78Met | |
| ENST00000472684.2:c.-161C>T | ENSP00000419616.2:n.-161C>T | |
| ENST00000647936.1:c.233C>T | ENSP00000496822.1:p.Thr78Met | |
| ENST00000648381.1:n.401C>T | ||
| ENST00000648853.1:c.191C>T | ENSP00000497262.1:p.Thr64Met | |
| ENST00000649103.1:c.212C>T | ENSP00000497962.1:p.Thr71Met | |
| ENST00000650591.1:c.329C>T | ENSP00000497376.1:p.Thr110Met | |
| ENST00000348974.4:c.329C>T | ENSP00000330021.6:p.Thr110Met | |
| ENST00000394236.7:c.233C>T | ENSP00000377783.3:p.Thr78Met | |
| ENST00000407433.5:c.-161C>T | ENSP00000385794.1:n.-161C>T | |
| ENST00000472684.1:c.-161C>T | ENSP00000419616.1:n.-161C>T | |
| NM_000313.3:c.233C>T , LRG_572t1:c.233C>T | NP_000304.2:p.Thr78Met | |
| NM_001314077.1:c.329C>T , LRG_572t2:c.329C>T | NP_001301006.1:p.Thr110Met | |
| NM_000313.4:c.233C>T MANE Select | NP_000304.2:p.Thr78Met | |
| NM_001314077.2:c.329C>T | NP_001301006.1:p.Thr110Met |