gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.8803191 (EAS)
Genomes Max Group AF
0.8803191 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.202954050T>C , CM000663.2:g.202954050T>C | GRCh38 |
| NC_000001.10:g.202923178T>C , CM000663.1:g.202923178T>C | GRCh37 |
| NC_000001.9:g.201189801T>C | NCBI36 |
| NG_052860.1:g.9523A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340990.10:c.-94-2886A>G MANE Select | ENSP00000341785.5:n.-94-2886A>G | |
| ENST00000340990.9:c.-94-2886A>G | ENSP00000341785.5:n.-94-2886A>G | |
| ENST00000367254.7:c.-94-2886A>G | ENSP00000356223.3:n.-94-2886A>G | |
| ENST00000417068.5:c.-95+191A>G | ENSP00000402178.1:n.-95+191A>G | |
| ENST00000426229.1:c.-95+191A>G | ENSP00000392946.1:n.-95+191A>G | |
| NM_001290553.1:c.-94-2886A>G | NP_001277482.1:n.-94-2886A>G | |
| NM_001290557.1:c.-95+191A>G | NP_001277486.1:n.-95+191A>G | |
| NM_001290629.1:c.-95+191A>G | NP_001277558.1:n.-95+191A>G | |
| NM_015999.5:c.-94-2886A>G | NP_057083.2:n.-94-2886A>G | |
| XM_017001407.1:c.-586+191A>G | XP_016856896.1:n.-586+191A>G | |
| XM_024447427.1:c.-585-2886A>G | XP_024303195.1:n.-585-2886A>G | |
| NM_015999.6:c.-94-2886A>G MANE Select | NP_057083.2:n.-94-2886A>G | |
| NM_001290553.2:c.-94-2886A>G | NP_001277482.1:n.-94-2886A>G |