gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.96212904 (EAS)
Genomes Max Group AF
0.96212904 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138759702G>A , CM000665.2:g.138759702G>A | GRCh38 |
| NC_000003.11:g.138478544G>A , CM000665.1:g.138478544G>A | GRCh37 |
| NC_000003.10:g.139961234G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674063.1:c.-16-343C>T MANE Select | ENSP00000501150.1:n.-16-343C>T | |
| ENST00000461451.1:c.-16-343C>T | ENSP00000420399.1:n.-16-343C>T | |
| ENST00000462898.5:c.-16-343C>T | ENSP00000420108.1:n.-16-343C>T | |
| ENST00000465581.1:c.-16-343C>T | ENSP00000417329.1:n.-16-343C>T | |
| ENST00000477593.5:c.-16-343C>T | ENSP00000418143.1:n.-16-343C>T | |
| ENST00000483968.5:c.-16-343C>T | ENSP00000419857.1:n.-16-343C>T | |
| XM_005247530.2:c.-16-343C>T | XP_005247587.1:n.-16-343C>T | |
| XM_006713659.2:c.-16-343C>T | XP_006713722.1:n.-16-343C>T | |
| XM_011512895.1:c.-16-343C>T | XP_011511197.1:n.-16-343C>T | |
| XM_006713659.3:c.-16-343C>T | XP_006713722.1:n.-16-343C>T | |
| XM_011512895.2:c.-16-343C>T | XP_011511197.1:n.-16-343C>T | |
| XM_017006619.1:c.-16-343C>T | XP_016862108.1:n.-16-343C>T | |
| NM_006219.3:c.-16-343C>T MANE Select | NP_006210.1:n.-16-343C>T |