gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000542 (NFE)
Exomes Max Group AF
0.00000531 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94408248C>A , CM000669.2:g.94408248C>A | GRCh38 |
| NC_000007.13:g.94037560C>A , CM000669.1:g.94037560C>A | GRCh37 |
| NC_000007.12:g.93875496C>A | NCBI36 |
| NG_007405.1:g.18688C>A , LRG_2:g.18688C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.693+12C>A MANE Select | ENSP00000297268.6:n.693+12C>A | |
| ENST00000297268.10:c.693+12C>A | ENSP00000297268.6:n.693+12C>A | |
| ENST00000620463.1:c.687+12C>A | ENSP00000477719.1:n.687+12C>A | |
| NM_000089.3:c.693+12C>A , LRG_2t1:c.693+12C>A | NP_000080.2:n.693+12C>A | |
| NM_000089.4:c.693+12C>A MANE Select | NP_000080.2:n.693+12C>A |