gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00225397 (NFE)
Genomes Max Group AF
0.00201474 (NFE)
Exomes Max Group AF
0.00225335 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116830638G>A , CM000673.2:g.116830638G>A | GRCh38 |
| NC_000011.9:g.116701354G>A , CM000673.1:g.116701354G>A | GRCh37 |
| NC_000011.8:g.116206564G>A | NCBI36 |
| NG_008949.1:g.5731G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227667.8:c.55+1G>A MANE Select | ENSP00000227667.2:n.55+1G>A | |
| ENST00000227667.7:c.55+1G>A | ENSP00000227667.2:n.55+1G>A | |
| ENST00000375345.3:c.109+1G>A | ENSP00000364494.1:n.109+1G>A | |
| ENST00000433777.5:c.55+1G>A | ENSP00000410614.1:n.55+1G>A | |
| ENST00000470144.1:n.87+1G>A | ||
| ENST00000630701.1:c.109+1G>A | ENSP00000486182.1:n.109+1G>A | |
| NM_000040.1:c.55+1G>A | NP_000031.1:n.55+1G>A | |
| NM_000040.2:c.55+1G>A | NP_000031.1:n.55+1G>A | |
| NM_000040.3:c.55+1G>A MANE Select | NP_000031.1:n.55+1G>A |