Revel Score:
ENST00000341640
0.917
ENST00000338516
0.917
ENST00000378740
0.917
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00469575 (AFR)
Genomes Max Group AF
0.00435731 (AFR)
Exomes Max Group AF
0.00473495 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.127615412G>A , CM000669.2:g.127615412G>A | GRCh38 |
| NC_000007.13:g.127255466G>A , CM000669.1:g.127255466G>A | GRCh37 |
| NC_000007.12:g.127042702G>A | NCBI36 |
| NG_012848.1:g.5315C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639438.3:c.133C>T MANE Select | ENSP00000491782.1:p.Arg45Trp | |
| ENST00000338516.7:c.133C>T | ENSP00000344297.4:p.Arg45Trp | |
| ENST00000341640.6:c.109C>T | ENSP00000339906.2:p.Arg37Trp | |
| ENST00000378740.6:c.109C>T | ENSP00000368014.3:p.Arg37Trp | |
| ENST00000463946.5:c.-203C>T | ENSP00000451923.1:n.-203C>T | |
| ENST00000483494.5:c.-203C>T | ENSP00000473846.1:n.-203C>T | |
| ENST00000611453.1:c.-203C>T | ENSP00000477877.1:n.-203C>T | |
| NM_006193.2:c.109C>T | NP_006184.2:p.Arg37Trp | |
| XM_011516276.1:c.133C>T | XP_011514578.1:p.Arg45Trp | |
| NM_001366110.1:c.133C>T MANE Select | NP_001353039.1:p.Arg45Trp | |
| NM_001366111.1:c.133C>T | NP_001353040.1:p.Arg45Trp |