gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.74479002 (AFR)
Genomes Max Group AF
0.74483962 (AFR)
Exomes Max Group AF
0.73982078 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10135353G>A , CM000681.2:g.10135353G>A | GRCh38 |
| NC_000019.9:g.10246029G>A , CM000681.1:g.10246029G>A | GRCh37 |
| NC_000019.8:g.10107029G>A | NCBI36 |
| NG_028016.3:g.100934C>T , LRG_362:g.100934C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359526.9:c.4773+383C>T MANE Select | ENSP00000352516.3:n.4773+383C>T | |
| ENST00000586667.2:n.2808+383C>T | ||
| ENST00000589351.6:n.3959+383C>T | ||
| ENST00000676604.1:n.4385+383C>T | ||
| ENST00000676610.1:c.*266C>T | ENSP00000504236.1:n.*266C>T | |
| ENST00000676820.1:n.5619+383C>T | ||
| ENST00000676868.1:n.5409+383C>T | ||
| ENST00000677013.1:c.*4415+383C>T | ENSP00000503135.1:n.*4415+383C>T | |
| ENST00000677038.1:n.1321+383C>T | ||
| ENST00000677250.1:c.*3845+383C>T | ENSP00000502894.1:n.*3845+383C>T | |
| ENST00000677616.1:c.*995+383C>T | ENSP00000503055.1:n.*995+383C>T | |
| ENST00000677634.1:c.*1328+383C>T | ENSP00000504246.1:n.*1328+383C>T | |
| ENST00000677685.1:c.*3950+383C>T | ENSP00000503407.1:n.*3950+383C>T | |
| ENST00000677783.1:n.6033+383C>T | ||
| ENST00000677946.1:c.4725+383C>T | ENSP00000504202.1:n.4725+383C>T | |
| ENST00000678024.1:n.5706+383C>T | ||
| ENST00000678107.1:n.1768+383C>T | ||
| ENST00000678239.1:n.2009C>T | ||
| ENST00000678647.1:n.2867+383C>T | ||
| ENST00000678694.1:n.4046+383C>T | ||
| ENST00000678804.1:c.4734+383C>T | ENSP00000503853.1:n.4734+383C>T | |
| ENST00000678851.1:n.1150C>T | ||
| ENST00000678957.1:n.2437+383C>T | ||
| ENST00000679100.1:n.2912+383C>T | ||
| ENST00000679103.1:c.4725+383C>T | ENSP00000503151.1:n.4725+383C>T | |
| ENST00000679313.1:c.4734+383C>T | ENSP00000504512.1:n.4734+383C>T | |
| ENST00000340748.8:c.4725+383C>T | ENSP00000345739.3:n.4725+383C>T | |
| ENST00000359526.8:c.4773+383C>T | ENSP00000352516.3:n.4773+383C>T | |
| ENST00000540357.5:c.3717+383C>T | ENSP00000440457.2:n.3717+383C>T | |
| ENST00000586588.5:n.2646+383C>T | ||
| ENST00000588913.5:c.1349+86C>T | ||
| ENST00000591798.5:n.79+86C>T | ||
| ENST00000592705.5:c.*4463+383C>T | ENSP00000466657.1:n.*4463+383C>T | |
| NM_001130823.1:c.4773+383C>T , LRG_362t1:c.4773+383C>T | NP_001124295.1:n.4773+383C>T | |
| NM_001379.2:c.4725+383C>T | NP_001370.1:n.4725+383C>T | |
| XM_011527772.1:c.4782+383C>T | XP_011526074.1:n.4782+383C>T | |
| XM_011527773.1:c.4734+383C>T | XP_011526075.1:n.4734+383C>T | |
| XM_011527774.1:c.4371+383C>T | XP_011526076.1:n.4371+383C>T | |
| NM_001130823.2:c.4773+383C>T | NP_001124295.1:n.4773+383C>T | |
| NM_001318730.1:c.4734+383C>T | NP_001305659.1:n.4734+383C>T | |
| NM_001318731.1:c.4410+383C>T | NP_001305660.1:n.4410+383C>T | |
| NM_001379.3:c.4725+383C>T | NP_001370.1:n.4725+383C>T | |
| NM_001130823.3:c.4773+383C>T MANE Select | NP_001124295.1:n.4773+383C>T | |
| NM_001318730.2:c.4734+383C>T | NP_001305659.1:n.4734+383C>T | |
| NM_001318731.2:c.4410+383C>T | NP_001305660.1:n.4410+383C>T | |
| NM_001379.4:c.4725+383C>T | NP_001370.1:n.4725+383C>T |