gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.6270454 (EAS)
Genomes Max Group AF
0.6270454 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56435308T>C , CM000674.2:g.56435308T>C | GRCh38 |
| NC_000012.11:g.56829092T>C , CM000674.1:g.56829092T>C | GRCh37 |
| NC_000012.10:g.55115359T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553532.6:c.-61-1077A>G MANE Select | ENSP00000450607.1:n.-61-1077A>G | |
| ENST00000229201.4:c.-61-1077A>G | ENSP00000229201.4:n.-61-1077A>G | |
| ENST00000553532.5:c.-61-1077A>G | ENSP00000450607.1:n.-61-1077A>G | |
| NM_003920.3:c.-61-1077A>G | NP_003911.2:n.-61-1077A>G | |
| XM_011538939.1:c.-61-1077A>G | XP_011537241.1:n.-61-1077A>G | |
| NM_001330295.1:c.-61-1077A>G | NP_001317224.1:n.-61-1077A>G | |
| NM_003920.4:c.-61-1077A>G | NP_003911.2:n.-61-1077A>G | |
| NR_138471.1:n.157-1077A>G | ||
| NM_003920.5:c.-61-1077A>G MANE Select | NP_003911.2:n.-61-1077A>G | |
| NM_001330295.2:c.-61-1077A>G | NP_001317224.1:n.-61-1077A>G | |
| NR_138471.2:n.118-1077A>G |