Revel Score:
ENST00000262464 (MANE Select)
0.323
ENST00000508053
0.323
ENST00000508989
0.323
ENST00000502468
0.323
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00149852 (NFE)
Genomes Max Group AF
0.00167099 (NFE)
Exomes Max Group AF
0.00147409 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128527886G>A , CM000667.2:g.128527886G>A | GRCh38 |
| NC_000005.9:g.127863579G>A , CM000667.1:g.127863579G>A | GRCh37 |
| NC_000005.8:g.127891478G>A | NCBI36 |
| NG_008750.1:g.15157C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000508053.6:c.518C>T | ENSP00000424571.2:p.Thr173Ile | |
| ENST00000703787.1:n.225C>T | ||
| ENST00000262464.9:c.518C>T MANE Select | ENSP00000262464.4:p.Thr173Ile | |
| ENST00000262464.8:c.518C>T | ENSP00000262464.4:p.Thr173Ile | |
| ENST00000502468.5:c.518C>T | ENSP00000424753.1:p.Thr173Ile | |
| ENST00000508053.5:c.518C>T | ENSP00000424571.1:p.Thr173Ile | |
| ENST00000508989.5:c.419C>T | ENSP00000425596.1:p.Thr140Ile | |
| ENST00000514742.1:n.1138C>T | ||
| ENST00000619499.4:c.518C>T | ENSP00000482132.1:p.Thr173Ile | |
| ENST00000620257.1:c.518C>T | ENSP00000479157.1:p.Thr173Ile | |
| NM_001999.3:c.518C>T | NP_001990.2:p.Thr173Ile | |
| XM_017009228.2:c.518C>T | XP_016864717.1:p.Thr173Ile | |
| NM_001999.4:c.518C>T MANE Select | NP_001990.2:p.Thr173Ile |