gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.15711253 (NFE)
Genomes Max Group AF
0.15711253 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.26034626C>T , CM000670.2:g.26034626C>T | GRCh38 |
| NC_000008.10:g.25892142C>T , CM000670.1:g.25892142C>T | GRCh37 |
| NC_000008.9:g.25948059C>T | NCBI36 |
| NG_030344.1:g.15499G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000520164.6:c.483-1473G>A MANE Select | ENSP00000430241.1:n.483-1473G>A | |
| ENST00000408929.7:c.39-1473G>A | ENSP00000386178.3:n.39-1473G>A | |
| ENST00000517825.1:n.802-1473G>A | ||
| ENST00000520164.5:c.483-1473G>A | ENSP00000430241.1:n.483-1473G>A | |
| NM_022659.3:c.483-1473G>A | NP_073150.2:n.483-1473G>A | |
| NM_022659.4:c.483-1473G>A MANE Select | NP_073150.2:n.483-1473G>A |