gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.39707096 (NFE)
Genomes Max Group AF
0.39707096 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.78701750C>A , CM000669.2:g.78701750C>A | GRCh38 |
| NC_000007.13:g.78331066C>A , CM000669.1:g.78331066C>A | GRCh37 |
| NC_000007.12:g.78169002C>A | NCBI36 |
| NG_011487.1:g.756825G>T | |
| NG_011487.2:g.756825G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354212.9:c.419-74511G>T MANE Select | ENSP00000346151.4:n.419-74511G>T | |
| ENST00000636717.1:c.-192+69101G>T | ENSP00000490128.1:n.-192+69101G>T | |
| ENST00000636993.1:n.190+69101G>T | ||
| ENST00000637441.1:c.419-74511G>T | ENSP00000489633.1:n.419-74511G>T | |
| ENST00000637486.1:c.-72+69101G>T | ENSP00000490080.1:n.-72+69101G>T | |
| ENST00000676103.1:n.272+69101G>T | ||
| ENST00000354212.8:c.419-74511G>T | ENSP00000346151.4:n.419-74511G>T | |
| ENST00000419488.5:c.419-74511G>T | ENSP00000405766.1:n.419-74511G>T | |
| ENST00000522391.3:c.419-74511G>T | ENSP00000428389.1:n.419-74511G>T | |
| ENST00000626691.2:c.-72+69101G>T | ENSP00000486131.1:n.-72+69101G>T | |
| ENST00000628781.1:c.-72+69101G>T | ENSP00000485970.1:n.-72+69101G>T | |
| ENST00000629359.2:c.-72+69101G>T | ENSP00000487448.1:n.-72+69101G>T | |
| ENST00000630991.2:c.-326+69101G>T | ENSP00000487435.1:n.-326+69101G>T | |
| NM_001301128.1:c.419-74511G>T | NP_001288057.1:n.419-74511G>T | |
| NM_012301.3:c.419-74511G>T | NP_036433.2:n.419-74511G>T | |
| XM_011516718.1:c.419-74511G>T | XP_011515020.1:n.419-74511G>T | |
| XM_011516719.1:c.-72+69101G>T | XP_011515021.1:n.-72+69101G>T | |
| XM_011516720.1:c.-72+7683G>T | XP_011515022.1:n.-72+7683G>T | |
| XM_011516723.1:c.419-74511G>T | XP_011515025.1:n.419-74511G>T | |
| XM_011516724.1:c.419-74511G>T | XP_011515026.1:n.419-74511G>T | |
| XM_011516725.1:c.419-74511G>T | XP_011515027.1:n.419-74511G>T | |
| XM_011516718.2:c.419-74511G>T | XP_011515020.1:n.419-74511G>T | |
| XM_011516719.3:c.-72+69101G>T | XP_011515021.1:n.-72+69101G>T | |
| XM_011516720.3:c.-72+7683G>T | XP_011515022.1:n.-72+7683G>T | |
| XM_017012840.2:c.419-74511G>T | XP_016868329.1:n.419-74511G>T | |
| XM_017012841.2:c.419-74511G>T | XP_016868330.1:n.419-74511G>T | |
| XM_017012842.2:c.419-74511G>T | XP_016868331.1:n.419-74511G>T | |
| XM_017012843.2:c.419-74511G>T | XP_016868332.1:n.419-74511G>T | |
| XM_017012844.2:c.419-74511G>T | XP_016868333.1:n.419-74511G>T | |
| XM_017012845.2:c.419-74511G>T | XP_016868334.1:n.419-74511G>T | |
| XM_017012846.2:c.419-74511G>T | XP_016868335.1:n.419-74511G>T | |
| XM_017012847.2:c.-72+7683G>T | XP_016868336.1:n.-72+7683G>T | |
| XM_017012848.2:c.-72+69101G>T | XP_016868337.1:n.-72+69101G>T | |
| XM_017012849.2:c.-72+69101G>T | XP_016868338.1:n.-72+69101G>T | |
| XM_017012850.2:c.419-74511G>T | XP_016868339.1:n.419-74511G>T | |
| XM_017012851.2:c.419-74511G>T | XP_016868340.1:n.419-74511G>T | |
| XM_017012852.2:c.419-74511G>T | XP_016868341.1:n.419-74511G>T | |
| XM_024447009.1:c.-71-74511G>T | XP_024302777.1:n.-71-74511G>T | |
| NM_012301.4:c.419-74511G>T MANE Select | NP_036433.2:n.419-74511G>T | |
| NM_001301128.2:c.419-74511G>T | NP_001288057.1:n.419-74511G>T |