gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.72896711 (EAS)
Genomes Max Group AF
0.72896711 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.44842267A>G , CM000673.2:g.44842267A>G | GRCh38 |
| NC_000011.9:g.44863818A>G , CM000673.1:g.44863818A>G | GRCh37 |
| NC_000011.8:g.44820394A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000520358.7:c.-152-18061A>G MANE Select | ENSP00000429993.2:n.-152-18061A>G | |
| ENST00000340160.7:c.-152-18061A>G | ENSP00000339820.3:n.-152-18061A>G | |
| ENST00000520358.6:c.-152-18061A>G | ENSP00000429993.2:n.-152-18061A>G | |
| ENST00000520999.6:c.-199-18061A>G | ENSP00000427942.2:n.-199-18061A>G | |
| ENST00000533080.5:c.-152-18061A>G | ENSP00000433362.1:n.-152-18061A>G | |
| ENST00000533202.5:c.-152-18061A>G | ENSP00000434625.1:n.-152-18061A>G | |
| ENST00000533786.5:c.-152-18061A>G | ENSP00000433592.1:n.-152-18061A>G | |
| NM_130783.4:c.-152-18061A>G | NP_570139.3:n.-152-18061A>G | |
| XM_005253217.2:c.-199-18061A>G | XP_005253274.1:n.-199-18061A>G | |
| XM_006718372.2:c.-199-18061A>G | XP_006718435.1:n.-199-18061A>G | |
| XM_006718373.2:c.-152-18061A>G | XP_006718436.1:n.-152-18061A>G | |
| XM_011520459.1:c.-161-18061A>G | XP_011518761.1:n.-161-18061A>G | |
| XM_005253217.3:c.-199-18061A>G | XP_005253274.1:n.-199-18061A>G | |
| XM_006718372.3:c.-199-18061A>G | XP_006718435.1:n.-199-18061A>G | |
| XM_006718373.4:c.-152-18061A>G | XP_006718436.1:n.-152-18061A>G | |
| XM_011520459.3:c.-161-18061A>G | XP_011518761.1:n.-161-18061A>G | |
| XM_017018530.1:c.-199-18061A>G | XP_016874019.1:n.-199-18061A>G | |
| XM_017018531.1:c.-152-18061A>G | XP_016874020.1:n.-152-18061A>G | |
| NM_130783.5:c.-152-18061A>G MANE Select | NP_570139.3:n.-152-18061A>G |