ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00245883 (EAS)
Genomes Max Group AF
0.00104938 (EAS)
Exomes Max Group AF
0.00254621 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197086873G>T , CM000663.2:g.197086873G>T | GRCh38 |
| NC_000001.10:g.197056003G>T , CM000663.1:g.197056003G>T | GRCh37 |
| NC_000001.9:g.195322626G>T | NCBI36 |
| NG_015867.1:g.64822C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367408.6:n.3548C>A | ||
| ENST00000367409.9:c.10261C>A MANE Select | ENSP00000356379.4:p.Gln3421Lys | |
| ENST00000680265.1:c.10483C>A | ENSP00000505384.1:p.Gln3495Lys | |
| ENST00000680710.1:c.10237C>A | ENSP00000506676.1:p.Gln3413Lys | |
| ENST00000294732.11:c.5506C>A | ENSP00000294732.7:p.Gln1836Lys | |
| ENST00000367408.5:c.3256C>A | ENSP00000356378.1:p.Gln1086Lys | |
| ENST00000367409.8:c.10261C>A | ENSP00000356379.4:p.Gln3421Lys | |
| NM_001206846.1:c.5506C>A | NP_001193775.1:p.Gln1836Lys | |
| NM_018136.4:c.10261C>A | NP_060606.3:p.Gln3421Lys | |
| NM_018136.5:c.10261C>A MANE Select | NP_060606.3:p.Gln3421Lys | |
| NM_001206846.2:c.5506C>A | NP_001193775.1:p.Gln1836Lys |