gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00100077 (AFR)
Genomes Max Group AF
0.00091904 (AFR)
Exomes Max Group AF
0.000928 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42930644G>A , CM000663.2:g.42930644G>A | GRCh38 |
| NC_000001.10:g.43396315G>A , CM000663.1:g.43396315G>A | GRCh37 |
| NC_000001.9:g.43168902G>A | NCBI36 |
| NG_008232.1:g.33533C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.498C>T MANE Select | ENSP00000416293.2:p.Val166= | |
| ENST00000674765.1:c.498C>T | ENSP00000501811.1:p.Val166= | |
| ENST00000675112.1:n.521C>T | ||
| ENST00000676254.1:n.947C>T | ||
| ENST00000426263.7:c.498C>T | ENSP00000416293.2:p.Val166= | |
| ENST00000439722.2:c.377C>T | ENSP00000395521.2:n.377C>T | |
| ENST00000475162.3:c.397C>T | ||
| ENST00000625233.2:n.706C>T | ||
| ENST00000630287.2:c.498C>T | ENSP00000486694.1:p.Val166= | |
| NM_006516.2:c.498C>T | NP_006507.2:p.Val166= | |
| NM_006516.3:c.498C>T | NP_006507.2:p.Val166= | |
| NM_006516.4:c.498C>T MANE Select | NP_006507.2:p.Val166= |