gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.9753627 (EAS)
Genomes Max Group AF
0.9753627 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.49717706A>C , CM000675.2:g.49717706A>C | GRCh38 |
| NC_000013.10:g.50291842A>C , CM000675.1:g.50291842A>C | GRCh37 |
| NC_000013.9:g.49189843A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261667.8:c.771+2069T>G MANE Select | ENSP00000261667.3:n.771+2069T>G | |
| ENST00000261667.7:c.771+2069T>G | ENSP00000261667.3:n.771+2069T>G | |
| NM_002267.3:c.771+2069T>G | NP_002258.2:n.771+2069T>G | |
| XM_017020561.1:c.699+2069T>G | XP_016876050.1:n.699+2069T>G | |
| NM_002267.4:c.771+2069T>G MANE Select | NP_002258.2:n.771+2069T>G |