Revel Score:
ENST00000355072 (MANE Select)
0.106
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.07798869 (AFR)
Genomes Max Group AF
0.07387444 (AFR)
Exomes Max Group AF
0.08175067 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.3160307C>T , CM000666.2:g.3160307C>T | GRCh38 |
| NC_000004.11:g.3162034C>T , CM000666.1:g.3162034C>T | GRCh37 |
| NC_000004.10:g.3131832C>T | NCBI36 |
| NG_009378.1:g.90633C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355072.11:c.3779C>T MANE Select | ENSP00000347184.5:p.Thr1260Met | |
| ENST00000355072.10:c.3779C>T | ENSP00000347184.5:p.Thr1260Met | |
| ENST00000680239.1:c.3521C>T | ENSP00000506169.1:p.Thr1174Met | |
| ENST00000680291.1:n.3876C>T | ||
| ENST00000680360.1:c.3521C>T | ENSP00000505014.1:p.Thr1174Met | |
| ENST00000680956.1:c.3521C>T | ENSP00000506029.1:p.Thr1174Met | |
| ENST00000681528.1:c.3521C>T | ENSP00000506116.1:p.Thr1174Met | |
| ENST00000355072.9:c.3779C>T | ENSP00000347184.5:p.Thr1260Met | |
| ENST00000510626.5:n.3878C>T | ||
| NM_002111.7:c.3785C>T | NP_002102.4:p.Thr1262Met | |
| NM_002111.8:c.3785C>T | NP_002102.4:p.Thr1262Met | |
| NM_001388492.1:c.3779C>T MANE Select | NP_001375421.1:p.Thr1260Met |