Revel Score:
ENST00000428225
0.023
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00279137 (EAS)
Genomes Max Group AF
0.00224447 (EAS)
Exomes Max Group AF
0.00273411 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85663740C>T , CM000664.2:g.85663740C>T | GRCh38 |
| NC_000002.11:g.85890863C>T , CM000664.1:g.85890863C>T | GRCh37 |
| NC_000002.10:g.85744374C>T | NCBI36 |
| NG_016967.1:g.10002G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409383.6:c.780G>A | ENSP00000386346.2:p.Thr260= | |
| ENST00000519937.7:c.780G>A MANE Select | ENSP00000428719.2:p.Thr260= | |
| ENST00000393822.7:c.780G>A | ENSP00000377409.4:p.Thr260= | |
| ENST00000409383.5:c.816G>A | ENSP00000386346.1:p.Thr272= | |
| ENST00000428225.5:c.769G>A | ||
| ENST00000519937.6:c.780G>A | ENSP00000428719.2:p.Thr260= | |
| NM_000542.3:c.816G>A | NP_000533.3:p.Thr272= | |
| NM_198843.2:c.816G>A | NP_942140.2:p.Thr272= | |
| XM_005264487.2:c.816G>A | XP_005264544.1:p.Thr272= | |
| XM_005264488.2:c.780G>A | XP_005264545.2:p.Thr260= | |
| XM_005264490.3:c.780G>A | XP_005264547.2:p.Thr260= | |
| XM_005264488.4:c.780G>A | XP_005264545.2:p.Thr260= | |
| XM_005264490.4:c.780G>A | XP_005264547.2:p.Thr260= | |
| NM_000542.4:c.780G>A | NP_000533.4:p.Thr260= | |
| NM_001367281.1:c.780G>A | NP_001354210.1:p.Thr260= | |
| NM_198843.3:c.780G>A | NP_942140.3:p.Thr260= | |
| NM_000542.5:c.780G>A MANE Select | NP_000533.4:p.Thr260= |