gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000436 (NFE)
Exomes Max Group AF
0.00000388 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140695846G>A , CM000667.2:g.140695846G>A | GRCh38 |
| NC_000005.9:g.140075431G>A , CM000667.1:g.140075431G>A | GRCh37 |
| NC_000005.8:g.140055615G>A | NCBI36 |
| NG_021415.1:g.9414G>A | |
| NG_032158.1:g.541C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230771.9:c.633+1G>A MANE Select | ENSP00000230771.3:n.633+1G>A | |
| ENST00000503873.6:c.411+1G>A | ENSP00000424516.2:n.411+1G>A | |
| ENST00000509299.6:c.423+1G>A | ENSP00000425695.2:n.423+1G>A | |
| ENST00000520095.6:c.*211+1G>A | ENSP00000429220.1:n.*211+1G>A | |
| ENST00000642452.1:c.599+1G>A | ||
| ENST00000642752.1:c.633+1G>A | ENSP00000493630.1:n.633+1G>A | |
| ENST00000642970.1:c.423+1G>A | ENSP00000496011.1:n.423+1G>A | |
| ENST00000643996.1:c.423+1G>A | ENSP00000495350.1:n.423+1G>A | |
| ENST00000645065.1:c.651+1G>A | ENSP00000493571.1:n.651+1G>A | |
| ENST00000645749.1:c.633+1G>A | ENSP00000494296.1:n.633+1G>A | |
| ENST00000646468.1:c.651+1G>A | ENSP00000494965.1:n.651+1G>A | |
| ENST00000647484.1:c.423+1G>A | ENSP00000494140.1:n.423+1G>A | |
| ENST00000230771.7:c.633+1G>A | ENSP00000230771.3:n.633+1G>A | |
| ENST00000448069.2:c.216+1G>A | ENSP00000407105.2:n.216+1G>A | |
| ENST00000508522.5:c.558+1G>A | ENSP00000423616.1:n.558+1G>A | |
| ENST00000510104.5:c.*434G>A | ENSP00000423530.1:n.*434G>A | |
| ENST00000513688.1:n.640+1G>A | ||
| NM_001278731.1:c.558+1G>A | NP_001265660.1:n.558+1G>A | |
| NM_001278732.1:c.201+1G>A | NP_001265661.1:n.201+1G>A | |
| NM_012208.3:c.633+1G>A | NP_036340.1:n.633+1G>A | |
| XM_011537619.1:c.651+1G>A | XP_011535921.1:n.651+1G>A | |
| XM_011537620.1:c.651+1G>A | XP_011535922.1:n.651+1G>A | |
| NM_001363535.1:c.651+1G>A | NP_001350464.1:n.651+1G>A | |
| NM_001363536.1:c.423+1G>A | NP_001350465.1:n.423+1G>A | |
| XM_017009288.1:c.423+1G>A | XP_016864777.1:n.423+1G>A | |
| XM_017009289.1:c.423+1G>A | XP_016864778.1:n.423+1G>A | |
| XM_017009290.2:c.-102+1G>A | XP_016864779.1:n.-102+1G>A | |
| XM_017009291.1:c.-102+1G>A | XP_016864780.1:n.-102+1G>A | |
| XM_017009292.1:c.-102+1G>A | XP_016864781.1:n.-102+1G>A | |
| NM_012208.4:c.633+1G>A MANE Select | NP_036340.1:n.633+1G>A | |
| NM_001278731.2:c.558+1G>A | NP_001265660.1:n.558+1G>A | |
| NM_001278732.2:c.201+1G>A | NP_001265661.1:n.201+1G>A | |
| NM_001363535.2:c.651+1G>A | NP_001350464.1:n.651+1G>A | |
| NM_001363536.2:c.423+1G>A | NP_001350465.1:n.423+1G>A |