Revel Score:
ENST00000348749 (MANE Select)
0.900
ENST00000261007
0.900
ENST00000409542
0.900
ENST00000409219
0.900
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001963 (NFE)
Exomes Max Group AF
0.00001998 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.174749951G>A , CM000664.2:g.174749951G>A | GRCh38 |
| NC_000002.11:g.175614679G>A , CM000664.1:g.175614679G>A | GRCh37 |
| NC_000002.10:g.175322925G>A | NCBI36 |
| NG_008172.1:g.19522C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636168.2:c.508C>T | ENSP00000490338.2:p.Arg170Trp | |
| ENST00000672640.1:c.508C>T | ENSP00000500507.1:p.Arg170Trp | |
| ENST00000261007.9:c.1072C>T | ENSP00000261007.5:p.Arg358Trp | |
| ENST00000348749.9:c.997C>T MANE Select | ENSP00000261008.5:p.Arg333Trp | |
| ENST00000409219.5:c.997C>T | ENSP00000386611.1:p.Arg333Trp | |
| ENST00000409542.5:c.751C>T | ENSP00000387026.1:p.Arg251Trp | |
| ENST00000435083.5:c.*641C>T | ENSP00000395805.1:n.*641C>T | |
| NM_000079.3:c.997C>T | NP_000070.1:p.Arg333Trp | |
| NM_001039523.2:c.1072C>T | NP_001034612.1:p.Arg358Trp | |
| XM_017003256.1:c.1093C>T | XP_016858745.1:p.Arg365Trp | |
| XM_017003257.1:c.1018C>T | XP_016858746.1:p.Arg340Trp | |
| NM_000079.4:c.997C>T MANE Select | NP_000070.1:p.Arg333Trp | |
| NM_001039523.3:c.1072C>T | NP_001034612.1:p.Arg358Trp |