gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.25194335 (MID)
Genomes Max Group AF
0.10634272 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.102370753A>G , CM000664.2:g.102370753A>G | GRCh38 |
| NC_000002.11:g.102987213A>G , CM000664.1:g.102987213A>G | GRCh37 |
| NC_000002.10:g.102353645A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233957.7:c.303-1200A>G MANE Select | ENSP00000233957.1:n.303-1200A>G | |
| ENST00000677287.1:c.303-1200A>G | ENSP00000503023.1:n.303-1200A>G | |
| ENST00000233957.5:c.303-1200A>G | ENSP00000233957.1:n.303-1200A>G | |
| ENST00000334376.4:c.303-1200A>G | ENSP00000334030.3:n.303-1200A>G | |
| ENST00000409599.5:c.303-1200A>G | ENSP00000387211.1:n.303-1200A>G | |
| ENST00000410040.5:c.303-1200A>G | ENSP00000386663.1:n.303-1200A>G | |
| NM_001282399.1:c.-220-1200A>G | NP_001269328.1:n.-220-1200A>G | |
| NM_003855.3:c.303-1200A>G | NP_003846.1:n.303-1200A>G | |
| XM_005264039.3:c.303-1200A>G | XP_005264096.1:n.303-1200A>G | |
| XM_005264040.3:c.303-1200A>G | XP_005264097.1:n.303-1200A>G | |
| XM_011512099.1:c.303-1200A>G | XP_011510401.1:n.303-1200A>G | |
| XR_923054.1:n.331-1200A>G | ||
| XM_017005181.2:c.-220-1200A>G | XP_016860670.1:n.-220-1200A>G | |
| XM_017005182.1:c.-445-1200A>G | XP_016860671.1:n.-445-1200A>G | |
| XM_017005183.1:c.-445-1200A>G | XP_016860672.1:n.-445-1200A>G | |
| XM_017005184.1:c.-279-5154A>G | XP_016860673.1:n.-279-5154A>G | |
| XM_024453202.1:c.303-1200A>G | XP_024308970.1:n.303-1200A>G | |
| XM_024453203.1:c.303-1200A>G | XP_024308971.1:n.303-1200A>G | |
| XM_024453204.1:c.303-1200A>G | XP_024308972.1:n.303-1200A>G | |
| XM_024453205.1:c.303-1200A>G | XP_024308973.1:n.303-1200A>G | |
| XR_923054.3:n.920-1200A>G | ||
| NM_001282399.2:c.-220-1200A>G | NP_001269328.1:n.-220-1200A>G | |
| NM_001371418.1:c.303-1200A>G | NP_001358347.1:n.303-1200A>G | |
| NM_001371419.1:c.303-1200A>G | NP_001358348.1:n.303-1200A>G | |
| NM_001371420.1:c.303-1200A>G | NP_001358349.1:n.303-1200A>G | |
| NM_001371421.1:c.-220-1200A>G | NP_001358350.1:n.-220-1200A>G | |
| NM_001371422.1:c.-445-1200A>G | NP_001358351.1:n.-445-1200A>G | |
| NM_001371423.1:c.-445-1200A>G | NP_001358352.1:n.-445-1200A>G | |
| NM_001371424.1:c.-279-5154A>G | NP_001358353.1:n.-279-5154A>G | |
| NM_003855.5:c.303-1200A>G MANE Select | NP_003846.1:n.303-1200A>G |