ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000689 (NFE)
Genomes Max Group AF
0.00005843 (NFE)
Exomes Max Group AF
0.0000661 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143316249C>A , CM000669.2:g.143316249C>A | GRCh38 |
| NC_000007.13:g.143013342C>A , CM000669.1:g.143013342C>A | GRCh37 |
| NC_000007.12:g.142723464C>A | NCBI36 |
| NG_009815.1:g.5124C>A | |
| NG_009815.2:g.5124C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.37C>A | ENSP00000498052.2:p.Gln13Lys | |
| ENST00000343257.7:c.37C>A MANE Select | ENSP00000339867.2:p.Gln13Lys | |
| ENST00000650516.1:c.37C>A | ENSP00000498052.1:p.Gln13Lys | |
| ENST00000343257.6:c.37C>A | ENSP00000339867.2:p.Gln13Lys | |
| NM_000083.2:c.37C>A | NP_000074.2:p.Gln13Lys | |
| NR_046453.1:n.124C>A | ||
| XM_011515781.1:c.37C>A | XP_011514083.1:p.Gln13Lys | |
| NM_000083.3:c.37C>A MANE Select | NP_000074.3:p.Gln13Lys | |
| NR_046453.2:n.139C>A |