gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.38853079 (EAS)
Genomes Max Group AF
0.38853079 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.38805206G>A , CM000666.2:g.38805206G>A | GRCh38 |
| NC_000004.11:g.38806827G>A , CM000666.1:g.38806827G>A | GRCh37 |
| NC_000004.10:g.38483222G>A | NCBI36 |
| NG_016228.1:g.4586C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000506146.5:c.-352-13C>T | ENSP00000423725.1:n.-352-13C>T | |
| ENST00000508364.1:c.-162C>T | ENSP00000424894.1:n.-162C>T | |
| ENST00000508535.1:n.328C>T | ||
| XM_005262662.3:c.-365C>T | XP_005262719.1:n.-365C>T | |
| XM_011513742.1:c.-288C>T | XP_011512044.1:n.-288C>T | |
| XM_011513743.1:c.-310C>T | XP_011512045.1:n.-310C>T | |
| XM_011513744.1:c.-233C>T | XP_011512046.1:n.-233C>T | |
| XM_011513745.1:c.-196C>T | XP_011512047.1:n.-196C>T | |
| XM_005262662.5:c.-365C>T | XP_005262719.1:n.-365C>T | |
| XM_011513742.3:c.-288C>T | XP_011512044.1:n.-288C>T | |
| XM_011513745.3:c.-196C>T | XP_011512047.1:n.-196C>T | |
| XM_017008571.2:c.-331C>T | XP_016864060.1:n.-331C>T | |
| XM_017008572.2:c.-273C>T | XP_016864061.1:n.-273C>T | |
| XM_024454199.1:c.-16C>T | XP_024309967.1:n.-16C>T |