gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.20036058 (EAS)
Genomes Max Group AF
0.20036058 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.124960947A>G , CM000672.2:g.124960947A>G | GRCh38 |
| NC_000010.10:g.126649516A>G , CM000672.1:g.126649516A>G | GRCh37 |
| NC_000010.9:g.126639506A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359653.4:c.815-5647A>G MANE Select | ENSP00000352676.4:n.815-5647A>G | |
| NM_017580.2:c.815-5647A>G | NP_060050.2:n.815-5647A>G | |
| XM_005269925.3:c.893-5647A>G | XP_005269982.1:n.893-5647A>G | |
| XM_005269926.3:c.815-5647A>G | XP_005269983.1:n.815-5647A>G | |
| XM_006717907.1:c.893-5647A>G | XP_006717970.1:n.893-5647A>G | |
| XM_006717907.2:c.893-5647A>G | XP_006717970.1:n.893-5647A>G | |
| XM_017016358.2:c.-286-1340A>G | XP_016871847.1:n.-286-1340A>G | |
| NM_017580.3:c.815-5647A>G MANE Select | NP_060050.2:n.815-5647A>G |