gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.79626325 (EAS)
Genomes Max Group AF
0.79626325 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.52500255T>C , CM000678.2:g.52500255T>C | GRCh38 |
| NC_000016.9:g.52534167T>C , CM000678.1:g.52534167T>C | GRCh37 |
| NC_000016.8:g.51091668T>C | NCBI36 |
| NG_012623.1:g.52548A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219746.14:c.88-31681A>G MANE Select | ENSP00000219746.9:n.88-31681A>G | |
| ENST00000219746.13:c.88-31681A>G | ENSP00000219746.9:n.88-31681A>G | |
| ENST00000407228.7:c.75+19151A>G | ENSP00000385705.3:n.75+19151A>G | |
| ENST00000563091.1:c.-21-31681A>G | ENSP00000457401.1:n.-21-31681A>G | |
| ENST00000568436.1:c.88-24615A>G | ENSP00000463843.1:n.88-24615A>G | |
| NM_001080430.2:c.88-31681A>G | NP_001073899.2:n.88-31681A>G | |
| NM_001146188.1:c.75+19151A>G | NP_001139660.1:n.75+19151A>G | |
| XM_005255892.2:c.88-31681A>G | XP_005255949.1:n.88-31681A>G | |
| XM_005255893.2:c.75+19151A>G | XP_005255950.1:n.75+19151A>G | |
| NM_001080430.3:c.88-31681A>G | NP_001073899.2:n.88-31681A>G | |
| NM_001146188.2:c.75+19151A>G | NP_001139660.1:n.75+19151A>G | |
| XM_005255892.3:c.88-31681A>G | XP_005255949.1:n.88-31681A>G | |
| XM_017023142.1:c.75+19151A>G | XP_016878631.1:n.75+19151A>G | |
| XM_024450230.1:c.75+19151A>G | XP_024305998.1:n.75+19151A>G | |
| NM_001080430.4:c.88-31681A>G MANE Select | NP_001073899.2:n.88-31681A>G |