gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.27683009 (MID)
Genomes Max Group AF
0.25516223 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197701985C>T , CM000663.2:g.197701985C>T | GRCh38 |
| NC_000001.10:g.197671115C>T , CM000663.1:g.197671115C>T | GRCh37 |
| NC_000001.9:g.195937738C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000620048.6:c.126+13046G>A MANE Select | ENSP00000479816.1:n.126+13046G>A | |
| ENST00000235453.8:c.96+13046G>A | ENSP00000235453.4:n.96+13046G>A | |
| ENST00000294737.11:c.126+13046G>A | ENSP00000294737.7:n.126+13046G>A | |
| ENST00000294738.5:n.268+13046G>A | ||
| ENST00000367396.7:c.126+13046G>A | ENSP00000356366.3:n.126+13046G>A | |
| ENST00000422998.1:c.19-27816G>A | ENSP00000410025.1:n.19-27816G>A | |
| ENST00000620048.4:c.126+13046G>A | ENSP00000479816.1:n.126+13046G>A | |
| NM_001195215.1:c.126+13046G>A | NP_001182144.1:n.126+13046G>A | |
| NM_001300858.1:c.96+13046G>A | NP_001287787.1:n.96+13046G>A | |
| NM_144977.4:c.126+13046G>A | NP_659414.2:n.126+13046G>A | |
| NR_125340.1:n.464+13046G>A | ||
| XM_005244931.2:c.126+13046G>A | XP_005244988.1:n.126+13046G>A | |
| XM_006711192.2:c.96+13046G>A | XP_006711255.1:n.96+13046G>A | |
| XM_006711193.2:c.96+13046G>A | XP_006711256.1:n.96+13046G>A | |
| XM_011509246.1:c.270+13046G>A | XP_011507548.1:n.270+13046G>A | |
| XM_011509247.1:c.270+13046G>A | XP_011507549.1:n.270+13046G>A | |
| XM_011509248.1:c.165+13046G>A | XP_011507550.1:n.165+13046G>A | |
| XM_011509249.1:c.96+13046G>A | XP_011507551.1:n.96+13046G>A | |
| XM_011509250.1:c.96+13046G>A | XP_011507552.1:n.96+13046G>A | |
| XM_011509251.1:c.270+13046G>A | XP_011507553.1:n.270+13046G>A | |
| XM_006711193.3:c.96+13046G>A | XP_006711256.1:n.96+13046G>A | |
| XM_011509246.2:c.270+13046G>A | XP_011507548.1:n.270+13046G>A | |
| XM_011509248.2:c.165+13046G>A | XP_011507550.1:n.165+13046G>A | |
| XM_011509249.2:c.96+13046G>A | XP_011507551.1:n.96+13046G>A | |
| XM_011509251.3:c.270+13046G>A | XP_011507553.1:n.270+13046G>A | |
| XM_017000470.1:c.96+13046G>A | XP_016855959.1:n.96+13046G>A | |
| XM_017000471.1:c.96+13046G>A | XP_016855960.1:n.96+13046G>A | |
| XM_024453626.1:c.-418+13046G>A | XP_024309394.1:n.-418+13046G>A | |
| XM_024453627.1:c.-621+13046G>A | XP_024309395.1:n.-621+13046G>A | |
| NM_001195215.2:c.126+13046G>A MANE Select | NP_001182144.1:n.126+13046G>A | |
| NM_001300858.2:c.96+13046G>A | NP_001287787.1:n.96+13046G>A | |
| NM_144977.5:c.126+13046G>A | NP_659414.2:n.126+13046G>A | |
| NR_125340.2:n.451+13046G>A |