gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.92313002 (EAS)
Genomes Max Group AF
0.92313002 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31241963A>G , CM000664.2:g.31241963A>G | GRCh38 |
| NC_000002.11:g.31464829A>G , CM000664.1:g.31464829A>G | GRCh37 |
| NC_000002.10:g.31318333A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322054.10:c.228-2311A>G MANE Select | ENSP00000327116.5:n.228-2311A>G | |
| ENST00000322054.9:c.228-2311A>G | ENSP00000327116.5:n.228-2311A>G | |
| ENST00000541626.2:c.228-2311A>G | ENSP00000440685.2:n.228-2311A>G | |
| NM_014600.2:c.228-2311A>G | NP_055415.1:n.228-2311A>G | |
| NM_014600.3:c.228-2311A>G MANE Select | NP_055415.1:n.228-2311A>G |