Revel Score:
ENST00000355610 (MANE Select)
0.033
ENST00000535534
0.033
ENST00000255495
0.033
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.93850983 (EAS)
Genomes Max Group AF
0.89897838 (EAS)
Exomes Max Group AF
0.94052088 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.106956972G>A , CM000685.2:g.106956972G>A | GRCh38 |
| NC_000023.10:g.106200202G>A , CM000685.1:g.106200202G>A | GRCh37 |
| NC_000023.9:g.106086858G>A | NCBI36 |
| NG_016392.1:g.48273C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355610.9:c.1418C>T MANE Select | ENSP00000347821.4:p.Thr473Ile | |
| ENST00000255495.7:c.1418C>T | ENSP00000255495.7:p.Thr473Ile | |
| ENST00000355610.8:c.1418C>T | ENSP00000347821.4:p.Thr473Ile | |
| ENST00000604604.1:c.111+36258C>T | ||
| NM_001085354.2:c.1418C>T | NP_001078823.1:p.Thr473Ile | |
| NM_024657.4:c.1418C>T | NP_078933.3:p.Thr473Ile | |
| XM_005262190.2:c.1142C>T | XP_005262247.1:p.Thr381Ile | |
| XM_006724691.1:c.1052C>T | XP_006724754.1:p.Thr351Ile | |
| XM_011531027.1:c.887C>T | XP_011529329.1:p.Thr296Ile | |
| XM_005262190.3:c.1142C>T | XP_005262247.1:p.Thr381Ile | |
| XM_006724691.2:c.1052C>T | XP_006724754.1:p.Thr351Ile | |
| XM_011531027.2:c.887C>T | XP_011529329.1:p.Thr296Ile | |
| XM_017029844.1:c.1142C>T | XP_016885333.1:p.Thr381Ile | |
| NM_024657.5:c.1418C>T MANE Select | NP_078933.3:p.Thr473Ile | |
| NM_001085354.3:c.1418C>T | NP_001078823.1:p.Thr473Ile |