gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.48398246 (NFE)
Genomes Max Group AF
0.48398246 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21544470G>A , CM000669.2:g.21544470G>A | GRCh38 |
| NC_000007.13:g.21584088G>A , CM000669.1:g.21584088G>A | GRCh37 |
| NC_000007.12:g.21550613G>A | NCBI36 |
| NG_012886.2:g.6256G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.352-536G>A MANE Select | ENSP00000475939.1:n.352-536G>A | |
| ENST00000328843.10:c.352-536G>A | ENSP00000330671.7:n.352-536G>A | |
| ENST00000409508.7:c.352-536G>A | ENSP00000475939.1:n.352-536G>A | |
| ENST00000607050.1:n.342-536G>A | ||
| ENST00000620169.4:c.352-536G>A | ENSP00000481693.1:n.352-536G>A | |
| NM_001277115.1:c.352-536G>A | NP_001264044.1:n.352-536G>A | |
| NM_001277115.2:c.352-536G>A MANE Select | NP_001264044.1:n.352-536G>A |