Revel Score:
ENST00000262948 (MANE Select)
0.396
ENST00000394867
0.396
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00694288 (AFR)
Genomes Max Group AF
0.0065426 (AFR)
Exomes Max Group AF
0.00698346 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4090639G>A , CM000681.2:g.4090639G>A | GRCh38 |
| NC_000019.9:g.4090637G>A , CM000681.1:g.4090637G>A | GRCh37 |
| NC_000019.8:g.4041637G>A | NCBI36 |
| NG_007996.1:g.38490C>T , LRG_750:g.38490C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.1601C>T | ||
| ENST00000688002.1:n.3313C>T | ||
| ENST00000688751.1:n.298C>T | ||
| ENST00000689792.1:n.1066C>T | ||
| ENST00000262948.10:c.1162C>T MANE Select | ENSP00000262948.4:p.Arg388Trp | |
| ENST00000262948.9:c.1162C>T | ENSP00000262948.3:p.Arg388Trp | |
| ENST00000394867.8:c.871C>T | ENSP00000378336.1:p.Arg291Trp | |
| ENST00000597263.5:n.347C>T | ||
| ENST00000599021.1:c.272C>T | ||
| ENST00000600584.5:n.2611C>T | ||
| ENST00000601786.5:n.1463C>T | ||
| NM_030662.3:c.1162C>T , LRG_750t1:c.1162C>T | NP_109587.1:p.Arg388Trp | |
| XM_006722799.2:c.883C>T | XP_006722862.1:p.Arg295Trp | |
| XM_011528133.1:c.592C>T | XP_011526435.1:p.Arg198Trp | |
| NM_030662.4:c.1162C>T MANE Select | NP_109587.1:p.Arg388Trp |