gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.92630058 (AFR)
Genomes Max Group AF
0.92627787 (AFR)
Exomes Max Group AF
0.60456626 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.54457420A>G , CM000664.2:g.54457420A>G | GRCh38 |
| NC_000002.11:g.54684557A>G , CM000664.1:g.54684557A>G | GRCh37 |
| NC_000002.10:g.54538061A>G | NCBI36 |
| NG_029817.1:g.6104A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356805.9:c.-48+902A>G MANE Select | ENSP00000349259.4:n.-48+902A>G | |
| ENST00000356805.8:c.-48+902A>G | ENSP00000349259.4:n.-48+902A>G | |
| ENST00000389980.7:c.-48+113A>G | ENSP00000374630.3:n.-48+113A>G | |
| ENST00000615901.4:c.-48+902A>G | ENSP00000479037.1:n.-48+902A>G | |
| NM_003128.2:c.-48+902A>G | NP_003119.2:n.-48+902A>G | |
| XM_005264517.1:c.-48+113A>G | XP_005264574.1:n.-48+113A>G | |
| XM_006712087.1:c.-48+151A>G | XP_006712150.1:n.-48+151A>G | |
| XM_005264517.2:c.-48+113A>G | XP_005264574.1:n.-48+113A>G | |
| XM_006712087.3:c.-48+151A>G | XP_006712150.1:n.-48+151A>G | |
| XM_017004779.1:c.-48+500A>G | XP_016860268.1:n.-48+500A>G | |
| XM_017004781.1:c.-48+455A>G | XP_016860270.1:n.-48+455A>G | |
| NM_003128.3:c.-48+902A>G MANE Select | NP_003119.2:n.-48+902A>G |