gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.93321899 (EAS)
Genomes Max Group AF
0.93321899 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.69880631A>G , CM000676.2:g.69880631A>G | GRCh38 |
| NC_000014.8:g.70347348A>G , CM000676.1:g.70347348A>G | GRCh37 |
| NC_000014.7:g.69417101A>G | NCBI36 |
| NG_028217.1:g.6235A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361956.8:c.99+854A>G MANE Select | ENSP00000355110.4:n.99+854A>G | |
| ENST00000361956.7:c.99+854A>G | ENSP00000355110.3:n.99+854A>G | |
| ENST00000381280.4:c.99+854A>G | ENSP00000370680.4:n.99+854A>G | |
| ENST00000555917.1:n.404+16417A>G | ||
| NM_001034852.2:c.99+854A>G | NP_001030024.1:n.99+854A>G | |
| NM_022137.5:c.99+854A>G | NP_071420.1:n.99+854A>G | |
| XM_005267995.1:c.99+854A>G | XP_005268052.1:n.99+854A>G | |
| XM_005267996.1:c.99+854A>G | XP_005268053.1:n.99+854A>G | |
| NM_001034852.3:c.99+854A>G MANE Select | NP_001030024.1:n.99+854A>G | |
| NM_022137.6:c.99+854A>G | NP_071420.1:n.99+854A>G |