ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0057466 (AFR)
Genomes Max Group AF
0.00508751 (AFR)
Exomes Max Group AF
0.00614201 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.16877035C>T , CM000672.2:g.16877035C>T | GRCh38 |
| NC_000010.10:g.16919034C>T , CM000672.1:g.16919034C>T | GRCh37 |
| NC_000010.9:g.16959040C>T | NCBI36 |
| NG_008967.1:g.257783G>A , LRG_540:g.257783G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377833.10:c.8968G>A MANE Select | ENSP00000367064.4:p.Val2990Ile | |
| ENST00000377833.8:c.8968G>A | ENSP00000367064.4:p.Val2990Ile | |
| NM_001081.3:c.8968G>A , LRG_540t1:c.8968G>A | NP_001072.2:p.Val2990Ile | |
| XM_011519709.1:c.4954G>A | XP_011518011.1:p.Val1652Ile | |
| XM_011519710.1:c.4930G>A | XP_011518012.1:p.Val1644Ile | |
| XM_011519711.1:c.4810G>A | XP_011518013.1:p.Val1604Ile | |
| XM_011519709.2:c.4954G>A | XP_011518011.1:p.Val1652Ile | |
| XM_011519710.2:c.4930G>A | XP_011518012.1:p.Val1644Ile | |
| XM_011519711.3:c.4810G>A | XP_011518013.1:p.Val1604Ile | |
| NM_001081.4:c.8968G>A MANE Select | NP_001072.2:p.Val2990Ile |