Revel Score:
ENST00000375244
0.617
ENST00000375247
0.617
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000262 (NFE)
Exomes Max Group AF
0.00000279 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32048638G>A , CM000668.2:g.32048638G>A | GRCh38 |
| NC_000006.11:g.32016415G>A , CM000668.1:g.32016415G>A | GRCh37 |
| NC_000006.10:g.32124393G>A | NCBI36 |
| NG_008337.2:g.65737C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644971.2:c.9770C>T MANE Select | ENSP00000496448.1:p.Thr3257Ile | |
| ENST00000647633.1:c.10511C>T | ENSP00000497649.1:p.Thr3504Ile | |
| ENST00000375244.7:c.9770C>T | ENSP00000364393.3:p.Thr3257Ile | |
| ENST00000611016.2:c.2924C>T | ENSP00000483409.1:p.Thr975Ile | |
| NM_019105.6:c.9764C>T | NP_061978.6:p.Thr3255Ile | |
| NM_001365276.1:c.9770C>T | NP_001352205.1:p.Thr3257Ile | |
| NM_019105.7:c.9764C>T | NP_061978.6:p.Thr3255Ile | |
| NM_001365276.2:c.9770C>T MANE Select | NP_001352205.1:p.Thr3257Ile | |
| NM_019105.8:c.9764C>T | NP_061978.6:p.Thr3255Ile |