gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.92740612 (EAS)
Genomes Max Group AF
0.92740612 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31259434A>G , CM000664.2:g.31259434A>G | GRCh38 |
| NC_000002.11:g.31482300A>G , CM000664.1:g.31482300A>G | GRCh37 |
| NC_000002.10:g.31335804A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322054.10:c.503-1076A>G MANE Select | ENSP00000327116.5:n.503-1076A>G | |
| ENST00000322054.9:c.503-1076A>G | ENSP00000327116.5:n.503-1076A>G | |
| ENST00000541626.2:c.503-1076A>G | ENSP00000440685.2:n.503-1076A>G | |
| NM_014600.2:c.503-1076A>G | NP_055415.1:n.503-1076A>G | |
| XM_011532806.1:c.-137-1076A>G | XP_011531108.1:n.-137-1076A>G | |
| XM_011532806.2:c.-137-1076A>G | XP_011531108.1:n.-137-1076A>G | |
| NM_014600.3:c.503-1076A>G MANE Select | NP_055415.1:n.503-1076A>G |