gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.44470397 (AFR)
Genomes Max Group AF
0.44470397 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150890858A>G , CM000667.2:g.150890858A>G | GRCh38 |
| NC_000005.9:g.150270420A>G , CM000667.1:g.150270420A>G | GRCh37 |
| NC_000005.8:g.150250613A>G | NCBI36 |
| NG_027809.2:g.49336A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000520549.1:c.356-9731A>G | ||
| XM_011537641.1:c.594-9731A>G | XP_011535943.1:n.594-9731A>G | |
| NM_001346557.1:c.594-9731A>G | NP_001333486.1:n.594-9731A>G | |
| NM_001346557.2:c.594-9731A>G | NP_001333486.1:n.594-9731A>G | |
| NR_170598.1:n.1844-9731A>G |