ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003549 (AFR)
Genomes Max Group AF
0.00001172 (NFE)
Exomes Max Group AF
0.00008198 (AFR)
Revel Score:
ENST00000342773
0.073
ENST00000538735
0.073
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100572698G>A , CM000669.2:g.100572698G>A | GRCh38 |
| NC_000007.13:g.100170321G>A , CM000669.1:g.100170321G>A | GRCh37 |
| NC_000007.12:g.100008257G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622764.3:c.565C>T MANE Select | ENSP00000481773.2:p.Arg189Trp | |
| ENST00000538735.5:c.271C>T | ENSP00000442339.1:p.Arg91Trp | |
| ENST00000611464.1:n.369C>T | ||
| ENST00000614631.4:c.271C>T | ENSP00000481351.1:p.Arg91Trp | |
| ENST00000622764.2:c.565C>T | ENSP00000481773.2:p.Arg189Trp | |
| NM_001168682.1:c.271C>T | NP_001162153.1:p.Arg91Trp | |
| XM_005250096.2:c.565C>T | XP_005250153.1:p.Arg189Trp | |
| XM_006715822.2:c.544C>T | XP_006715885.1:p.Arg182Trp | |
| NM_001168682.2:c.544C>T | NP_001162153.2:p.Arg182Trp | |
| NM_001348677.1:c.271C>T | NP_001335606.1:p.Arg91Trp | |
| NM_001348680.1:c.565C>T | NP_001335609.1:p.Arg189Trp | |
| NM_001348680.2:c.565C>T MANE Select | NP_001335609.1:p.Arg189Trp | |
| NM_001168682.3:c.544C>T | NP_001162153.2:p.Arg182Trp | |
| NM_001348677.2:c.271C>T | NP_001335606.1:p.Arg91Trp |