Revel Score:
ENST00000379727 (MANE Select)
0.088
ENST00000395048
0.088
ENST00000395049
0.088
ENST00000268062
0.088
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001746 (AFR)
Exomes Max Group AF
0.00002375 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74720646G>A , CM000677.2:g.74720646G>A | GRCh38 |
| NC_000015.9:g.75012987G>A , CM000677.1:g.75012987G>A | GRCh37 |
| NC_000015.8:g.72800040G>A | NCBI36 |
| NG_008431.1:g.3105G>A | |
| NG_008431.2:g.3105G>A | |
| NG_061374.1:g.9883C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379727.8:c.1382C>T MANE Select | ENSP00000369050.3:p.Thr461Ile | |
| ENST00000379727.7:c.1382C>T | ENSP00000369050.3:p.Thr461Ile | |
| ENST00000395048.6:c.1382C>T | ENSP00000378488.2:p.Thr461Ile | |
| ENST00000395049.8:c.1295C>T | ENSP00000378489.4:p.Thr432Ile | |
| ENST00000567032.5:c.1382C>T | ENSP00000456585.1:p.Thr461Ile | |
| ENST00000612821.4:c.1298C>T | ENSP00000479744.1:p.Thr433Ile | |
| ENST00000617691.4:c.1295C>T | ENSP00000482863.1:p.Thr432Ile | |
| NM_000499.3:c.1382C>T | NP_000490.1:p.Thr461Ile | |
| XM_005254185.1:c.1382C>T | XP_005254242.1:p.Thr461Ile | |
| NM_000499.5:c.1382C>T | NP_000490.1:p.Thr461Ile | |
| NM_001319216.2:c.1295C>T | NP_001306145.1:p.Thr432Ile | |
| NM_001319217.2:c.1382C>T MANE Select | NP_001306146.1:p.Thr461Ile |