ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00098584 (EAS)
Genomes Max Group AF
0.00037903 (EAS)
Exomes Max Group AF
0.00100338 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.17114174C>T , CM000672.2:g.17114174C>T | GRCh38 |
| NC_000010.10:g.17156173C>T , CM000672.1:g.17156173C>T | GRCh37 |
| NC_000010.9:g.17196179C>T | NCBI36 |
| NG_008967.1:g.20644G>A , LRG_540:g.20644G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377833.10:c.736G>A MANE Select | ENSP00000367064.4:p.Val246Ile | |
| ENST00000377833.8:c.736G>A | ENSP00000367064.4:p.Val246Ile | |
| NM_001081.3:c.736G>A , LRG_540t1:c.736G>A | NP_001072.2:p.Val246Ile | |
| XM_011519708.1:c.736G>A | XP_011518010.1:p.Val246Ile | |
| XM_011519708.2:c.736G>A | XP_011518010.1:p.Val246Ile | |
| NM_001081.4:c.736G>A MANE Select | NP_001072.2:p.Val246Ile |