gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.7335631 (AFR)
Genomes Max Group AF
0.73329687 (AFR)
Exomes Max Group AF
0.72341258 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39917778T>C , CM000679.2:g.39917778T>C | GRCh38 |
| NC_000017.10:g.38074031T>C , CM000679.1:g.38074031T>C | GRCh37 |
| NC_000017.9:g.35327557T>C | NCBI36 |
| NG_015804.1:g.5873A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000418519.6:c.-14-448A>G MANE Select | ENSP00000415049.1:n.-14-448A>G | |
| ENST00000309481.11:c.-14-448A>G | ENSP00000312584.7:n.-14-448A>G | |
| ENST00000418519.5:c.-14-448A>G | ENSP00000415049.1:n.-14-448A>G | |
| ENST00000477054.6:n.2077A>G | ||
| ENST00000520542.5:c.-5-457A>G | ENSP00000430157.1:n.-5-457A>G | |
| NM_001042471.1:c.-14-448A>G | NP_001035936.1:n.-14-448A>G | |
| NM_001165958.1:c.-14-448A>G | NP_001159430.1:n.-14-448A>G | |
| NM_001165959.1:c.-5-457A>G | NP_001159431.1:n.-5-457A>G | |
| XM_011525001.1:c.-15+1A>G | XP_011523303.1:n.-15+1A>G | |
| XM_011525002.1:c.-6+1A>G | XP_011523304.1:n.-6+1A>G | |
| XM_011525003.1:c.-15+1A>G | XP_011523305.1:n.-15+1A>G | |
| XM_011525004.1:c.-15+87A>G | XP_011523306.1:n.-15+87A>G | |
| XM_011525005.1:c.-15+1A>G | XP_011523307.1:n.-15+1A>G | |
| XM_011525006.1:c.-6+87A>G | XP_011523308.1:n.-6+87A>G | |
| XM_011525007.1:c.-5-457A>G | XP_011523309.1:n.-5-457A>G | |
| XM_011525008.1:c.-15+1A>G | XP_011523310.1:n.-15+1A>G | |
| XM_011525009.1:c.-15+407A>G | XP_011523311.1:n.-15+407A>G | |
| XM_011525010.1:c.-15+1A>G | XP_011523312.1:n.-15+1A>G | |
| XM_011525011.1:c.-14-448A>G | XP_011523313.1:n.-14-448A>G | |
| XM_011525012.1:c.-6+407A>G | XP_011523314.1:n.-6+407A>G | |
| XM_011525013.1:c.-15+407A>G | XP_011523315.1:n.-15+407A>G | |
| XM_011525014.1:c.-15+1A>G | XP_011523316.1:n.-15+1A>G | |
| XM_011525015.1:c.-6+407A>G | XP_011523317.1:n.-6+407A>G | |
| XM_011525016.1:c.-15+1A>G | XP_011523318.1:n.-15+1A>G | |
| XM_011525017.1:c.-15+1A>G | XP_011523319.1:n.-15+1A>G | |
| XM_011525018.1:c.-15+1A>G | XP_011523320.1:n.-15+1A>G | |
| XM_011525019.1:c.-15+1A>G | XP_011523321.1:n.-15+1A>G | |
| XM_011525020.1:c.-15+1A>G | XP_011523322.1:n.-15+1A>G | |
| XM_011525021.1:c.-15+1A>G | XP_011523323.1:n.-15+1A>G | |
| XR_934504.1:n.1599+1A>G | ||
| NM_001042471.2:c.-14-448A>G | NP_001035936.1:n.-14-448A>G | |
| NM_001165958.2:c.-14-448A>G MANE Select | NP_001159430.1:n.-14-448A>G | |
| NM_001165959.2:c.-5-457A>G | NP_001159431.1:n.-5-457A>G | |
| NM_001369402.2:c.-462A>G | NP_001356331.1:n.-462A>G | |
| NM_001388420.1:c.-462A>G | NP_001375349.1:n.-462A>G | |
| NM_001388421.1:c.-462A>G | NP_001375350.1:n.-462A>G | |
| NM_001388422.1:c.-5-457A>G | NP_001375351.1:n.-5-457A>G | |
| NM_001388423.1:c.-5-457A>G | NP_001375352.1:n.-5-457A>G | |
| NM_001388424.1:c.-462A>G | NP_001375353.1:n.-462A>G | |
| NM_018530.3:c.-462A>G | NP_061000.2:n.-462A>G | |
| NR_170970.1:n.103-457A>G | ||
| NR_170971.1:n.858A>G | ||
| NR_170972.1:n.858A>G | ||
| NR_170973.1:n.858A>G | ||
| NR_170974.1:n.858A>G |