ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002978 (EAS)
Genomes Max Group AF
0.00006835 (EAS)
Exomes Max Group AF
0.00000932 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128636919G>A , CM000671.2:g.128636919G>A | GRCh38 |
| NC_000009.11:g.131399198G>A , CM000671.1:g.131399198G>A | GRCh37 |
| NC_000009.10:g.130439019G>A | NCBI36 |
| NG_034056.1:g.24932C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372715.7:c.544C>T MANE Select | ENSP00000361800.2:p.Arg182Trp | |
| ENST00000419989.2:c.391-481C>T | ENSP00000415421.1:n.391-481C>T | |
| ENST00000480613.6:n.391-481C>T | ||
| ENST00000372715.6:c.544C>T | ENSP00000361800.2:p.Arg182Trp | |
| ENST00000419989.1:c.391-481C>T | ENSP00000415421.1:n.391-481C>T | |
| ENST00000451652.5:c.517C>T | ENSP00000411370.1:p.Arg173Trp | |
| ENST00000473486.1:n.110C>T | ||
| ENST00000480613.5:n.391-481C>T | ||
| NM_052844.3:c.544C>T | NP_443076.2:p.Arg182Trp | |
| XM_011519179.1:c.544C>T | XP_011517481.1:p.Arg182Trp | |
| XM_011519179.2:c.544C>T | XP_011517481.1:p.Arg182Trp | |
| NM_052844.4:c.544C>T MANE Select | NP_443076.2:p.Arg182Trp |