gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.9691664 (AFR)
Genomes Max Group AF
0.9691664 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94982060A>G , CM000672.2:g.94982060A>G | GRCh38 |
| NC_000010.10:g.96741817A>G , CM000672.1:g.96741817A>G | GRCh37 |
| NC_000010.9:g.96731807A>G | NCBI36 |
| NG_008385.1:g.48403A>G | |
| NG_008385.2:g.48903A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.1149+690A>G MANE Select | ENSP00000260682.6:n.1149+690A>G | |
| ENST00000643112.1:c.*158+690A>G | ENSP00000496202.1:n.*158+690A>G | |
| ENST00000260682.6:c.1149+690A>G | ENSP00000260682.6:n.1149+690A>G | |
| NM_000771.3:c.1149+690A>G | NP_000762.2:n.1149+690A>G | |
| NM_000771.4:c.1149+690A>G MANE Select | NP_000762.2:n.1149+690A>G |