gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.39769054 (EAS)
Genomes Max Group AF
0.39769054 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.179701951G>A , CM000664.2:g.179701951G>A | GRCh38 |
| NC_000002.11:g.180566678G>A , CM000664.1:g.180566678G>A | GRCh37 |
| NC_000002.10:g.180274923G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000410066.7:c.298+67552C>T MANE Select | ENSP00000386845.2:n.298+67552C>T | |
| ENST00000409343.5:c.25+43762C>T | ENSP00000386379.1:n.25+43762C>T | |
| ENST00000410066.5:c.253+67552C>T | ENSP00000386845.1:n.253+67552C>T | |
| ENST00000475539.5:n.142+43762C>T | ||
| NM_001113397.1:c.25+43762C>T | NP_001106868.1:n.25+43762C>T | |
| NM_152520.4:c.253+67552C>T | NP_689733.3:n.253+67552C>T | |
| XM_011510713.1:c.298+67552C>T | XP_011509015.1:n.298+67552C>T | |
| XM_011510714.1:c.298+67552C>T | XP_011509016.1:n.298+67552C>T | |
| XM_011510715.1:c.298+67552C>T | XP_011509017.1:n.298+67552C>T | |
| XM_011510723.1:c.298+67552C>T | XP_011509025.1:n.298+67552C>T | |
| NM_001113397.2:c.25+43762C>T | NP_001106868.1:n.25+43762C>T | |
| NM_001352808.1:c.298+67552C>T | NP_001339737.1:n.298+67552C>T | |
| NM_001352809.1:c.436+43762C>T | NP_001339738.1:n.436+43762C>T | |
| NM_001352810.1:c.298+67552C>T | NP_001339739.1:n.298+67552C>T | |
| NM_001352811.1:c.298+67552C>T | NP_001339740.1:n.298+67552C>T | |
| NM_001352813.1:c.-54+43514C>T | NP_001339742.1:n.-54+43514C>T | |
| NM_001352815.1:c.-54+17912C>T | NP_001339744.1:n.-54+17912C>T | |
| NM_001352816.1:c.54+67552C>T | NP_001339745.1:n.54+67552C>T | |
| NM_001352817.1:c.-1+43762C>T | NP_001339746.1:n.-1+43762C>T | |
| NM_152520.5:c.298+67552C>T | NP_689733.4:n.298+67552C>T | |
| NR_148054.1:n.857+67552C>T | ||
| NR_148056.1:n.857+67552C>T | ||
| NR_148057.1:n.857+67552C>T | ||
| NR_148058.1:n.857+67552C>T | ||
| NR_148059.1:n.798+43762C>T | ||
| XM_011510713.3:c.298+67552C>T | XP_011509015.1:n.298+67552C>T | |
| XM_011510723.2:c.298+67552C>T | XP_011509025.1:n.298+67552C>T | |
| XM_017003441.2:c.298+67552C>T | XP_016858930.1:n.298+67552C>T | |
| XR_001739815.1:n.5822C>T | ||
| NM_152520.6:c.298+67552C>T MANE Select | NP_689733.4:n.298+67552C>T | |
| NM_001352808.2:c.298+67552C>T | NP_001339737.1:n.298+67552C>T | |
| NM_001352809.2:c.436+43762C>T | NP_001339738.1:n.436+43762C>T | |
| NM_001352810.2:c.298+67552C>T | NP_001339739.1:n.298+67552C>T | |
| NM_001352811.2:c.298+67552C>T | NP_001339740.1:n.298+67552C>T | |
| NM_001352816.2:c.54+67552C>T | NP_001339745.1:n.54+67552C>T | |
| NR_148054.2:n.964+67552C>T | ||
| NR_148056.2:n.964+67552C>T | ||
| NR_148057.2:n.964+67552C>T | ||
| NR_148058.2:n.964+67552C>T | ||
| NM_001352813.2:c.-54+43514C>T | NP_001339742.1:n.-54+43514C>T |