gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.69901763 (EAS)
Genomes Max Group AF
0.69936917 (EAS)
Exomes Max Group AF
0.36429218 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39919173G>A , CM000679.2:g.39919173G>A | GRCh38 |
| NC_000017.10:g.38075426G>A , CM000679.1:g.38075426G>A | GRCh37 |
| NC_000017.9:g.35328952G>A | NCBI36 |
| NG_015804.1:g.4478C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477054.6:n.682C>T | ||
| XM_011525001.1:c.-1409C>T | XP_011523303.1:n.-1409C>T | |
| XM_011525002.1:c.-1400C>T | XP_011523304.1:n.-1400C>T | |
| XM_011525003.1:c.-1118C>T | XP_011523305.1:n.-1118C>T | |
| XM_011525004.1:c.-1323C>T | XP_011523306.1:n.-1323C>T | |
| XM_011525005.1:c.-1198C>T | XP_011523307.1:n.-1198C>T | |
| XM_011525006.1:c.-1314C>T | XP_011523308.1:n.-1314C>T | |
| XM_011525008.1:c.-907C>T | XP_011523310.1:n.-907C>T | |
| XM_011525009.1:c.-1003C>T | XP_011523311.1:n.-1003C>T | |
| XM_011525010.1:c.-1089C>T | XP_011523312.1:n.-1089C>T | |
| XM_011525011.1:c.-654C>T | XP_011523313.1:n.-654C>T | |
| XM_011525012.1:c.-994C>T | XP_011523314.1:n.-994C>T | |
| XM_011525013.1:c.-712C>T | XP_011523315.1:n.-712C>T | |
| XM_011525014.1:c.-798C>T | XP_011523316.1:n.-798C>T | |
| XM_011525015.1:c.-703C>T | XP_011523317.1:n.-703C>T | |
| XM_011525016.1:c.-1409C>T | XP_011523318.1:n.-1409C>T | |
| XM_011525017.1:c.-1409C>T | XP_011523319.1:n.-1409C>T | |
| XM_011525018.1:c.-1409C>T | XP_011523320.1:n.-1409C>T | |
| XM_011525019.1:c.-1409C>T | XP_011523321.1:n.-1409C>T | |
| XM_011525020.1:c.-1409C>T | XP_011523322.1:n.-1409C>T | |
| XM_011525021.1:c.-1409C>T | XP_011523323.1:n.-1409C>T | |
| XR_934504.1:n.205C>T |