Revel Score:
ENST00000442457
0.121
ENST00000253122 (MANE Select)
0.219
ENST00000430077
0.219
ENST00000328897
0.219
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003406 (AFR)
Genomes Max Group AF
0.00004468 (AFR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153694188A>T , CM000685.2:g.153694188A>T | GRCh38 |
| NC_000023.10:g.152959643A>T , CM000685.1:g.152959643A>T | GRCh37 |
| NC_000023.9:g.152612837A>T | NCBI36 |
| NG_012016.1:g.10892A>T | |
| NG_012016.2:g.10892A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.1313A>T MANE Select | ENSP00000253122.5:p.Tyr438Phe | |
| ENST00000253122.9:c.1313A>T | ENSP00000253122.5:p.Tyr438Phe | |
| ENST00000413787.1:c.258-16A>T | ENSP00000400463.1:n.258-16A>T | |
| ENST00000430077.6:c.968A>T | ENSP00000403041.2:p.Tyr323Phe | |
| ENST00000442457.1:c.367A>T | ||
| ENST00000485324.1:n.1458A>T | ||
| NM_001142805.1:c.1283A>T | NP_001136277.1:p.Tyr428Phe | |
| NM_001142806.1:c.968A>T | NP_001136278.1:p.Tyr323Phe | |
| NM_005629.3:c.1313A>T | NP_005620.1:p.Tyr438Phe | |
| NM_005629.4:c.1313A>T MANE Select | NP_005620.1:p.Tyr438Phe | |
| NM_001142805.2:c.1283A>T | NP_001136277.1:p.Tyr428Phe |