gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.15112451 (NFE)
Genomes Max Group AF
0.15112451 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.20253705A>G , CM000672.2:g.20253705A>G | GRCh38 |
| NC_000010.10:g.20542634A>G , CM000672.1:g.20542634A>G | GRCh37 |
| NC_000010.9:g.20582640A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377252.5:c.1473+8200A>G MANE Select | ENSP00000366460.3:n.1473+8200A>G | |
| ENST00000377238.2:n.1248+8200A>G | ||
| ENST00000377242.7:c.1326+8200A>G | ENSP00000366450.3:n.1326+8200A>G | |
| ENST00000377252.4:c.1473+8200A>G | ENSP00000366460.3:n.1473+8200A>G | |
| NM_001282736.1:c.1326+8200A>G | NP_001269665.1:n.1326+8200A>G | |
| NM_032812.8:c.1473+8200A>G | NP_116201.7:n.1473+8200A>G | |
| NM_032812.9:c.1473+8200A>G MANE Select | NP_116201.7:n.1473+8200A>G | |
| NM_001282736.2:c.1326+8200A>G | NP_001269665.1:n.1326+8200A>G |