gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.05054913 (AFR)
Genomes Max Group AF
0.05054913 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.28359784C>A , CM000671.2:g.28359784C>A | GRCh38 |
| NC_000009.11:g.28359782C>A , CM000671.1:g.28359782C>A | GRCh37 |
| NC_000009.10:g.28349782C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698399.1:c.-195+13052G>T MANE Select | ENSP00000513694.1:n.-195+13052G>T | |
| ENST00000698400.1:c.-410+13052G>T | ENSP00000513695.1:n.-410+13052G>T | |
| ENST00000698401.1:c.-597-64418G>T | ENSP00000513696.1:n.-597-64418G>T | |
| ENST00000698402.1:c.-350+13052G>T | ENSP00000513697.1:n.-350+13052G>T | |
| ENST00000698403.1:c.-571+13052G>T | ENSP00000513698.1:n.-571+13052G>T | |
| ENST00000698404.1:c.-306+13052G>T | ENSP00000513699.1:n.-306+13052G>T | |
| ENST00000308675.5:c.-260-64402G>T | ENSP00000310126.3:n.-260-64402G>T | |
| ENST00000379992.6:c.-246+13052G>T | ENSP00000369328.1:n.-246+13052G>T | |
| ENST00000613945.3:c.-209-64402G>T | ENSP00000479634.1:n.-209-64402G>T | |
| NM_001258282.1:c.-195+13052G>T | NP_001245211.1:n.-195+13052G>T | |
| NM_152570.2:c.-246+13052G>T | NP_689783.1:n.-246+13052G>T | |
| XM_011517715.1:c.-195+13052G>T | XP_011516017.1:n.-195+13052G>T | |
| XM_011517716.1:c.-195+13052G>T | XP_011516018.1:n.-195+13052G>T | |
| XM_011517717.1:c.-195+13052G>T | XP_011516019.1:n.-195+13052G>T | |
| XM_011517718.1:c.-195+13052G>T | XP_011516020.1:n.-195+13052G>T | |
| XM_011517719.1:c.-194-64418G>T | XP_011516021.1:n.-194-64418G>T | |
| NM_001258282.2:c.-195+13052G>T | NP_001245211.1:n.-195+13052G>T | |
| NM_001354574.1:c.-194-64418G>T | NP_001341503.1:n.-194-64418G>T | |
| NM_001354575.1:c.-195+13052G>T | NP_001341504.1:n.-195+13052G>T | |
| NM_152570.3:c.-246+13052G>T | NP_689783.1:n.-246+13052G>T | |
| XM_017014303.2:c.-2820+13052G>T | XP_016869792.1:n.-2820+13052G>T | |
| XR_001746186.2:n.2359+13052G>T | ||
| NM_001258282.3:c.-195+13052G>T MANE Select | NP_001245211.1:n.-195+13052G>T | |
| NM_001354574.2:c.-194-64418G>T | NP_001341503.1:n.-194-64418G>T | |
| NM_001354575.2:c.-195+13052G>T | NP_001341504.1:n.-195+13052G>T | |
| NM_152570.4:c.-246+13052G>T | NP_689783.1:n.-246+13052G>T |