MyVariant.info:
GRCh38
chr9:g.133353855G>A
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005936 (SAS)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00005395 (SAS)
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133353855G>A , CM000671.2:g.133353855G>A | GRCh38 |
| NC_000009.10:g.135210531G>A | NCBI36 |
| NG_008477.1:g.7652C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371974.8:c.409C>T MANE Select | ENSP00000361042.3:p.Arg137Trp | |
| ENST00000371974.7:c.409C>T | ENSP00000361042.3:p.Arg137Trp | |
| ENST00000437995.1:n.355C>T | ||
| ENST00000495952.5:n.399C>T | ||
| ENST00000615505.4:c.82C>T | ENSP00000482067.1:p.Arg28Trp | |
| NM_001280787.1:c.82C>T | NP_001267716.1:p.Arg28Trp | |
| NM_003172.3:c.409C>T | NP_003163.1:p.Arg137Trp | |
| XM_011518942.1:c.82C>T | XP_011517244.1:p.Arg28Trp | |
| NM_003172.4:c.409C>T MANE Select | NP_003163.1:p.Arg137Trp |