gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.50838519 (AFR)
Genomes Max Group AF
0.50838519 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.138872266C>T , CM000670.2:g.138872266C>T | GRCh38 |
| NC_000008.10:g.139884509C>T , CM000670.1:g.139884509C>T | GRCh37 |
| NC_000008.9:g.139953691C>T | NCBI36 |
| NG_054761.1:g.46822G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303045.11:c.658+5484G>A MANE Select | ENSP00000303153.6:n.658+5484G>A | |
| ENST00000303045.10:c.658+5484G>A | ENSP00000303153.6:n.658+5484G>A | |
| ENST00000435777.2:c.658+5484G>A | ENSP00000387655.2:n.658+5484G>A | |
| NM_152888.2:c.658+5484G>A | NP_690848.1:n.658+5484G>A | |
| XM_011516883.1:c.658+5484G>A | XP_011515185.1:n.658+5484G>A | |
| XM_011516884.1:c.658+5484G>A | XP_011515186.1:n.658+5484G>A | |
| XM_011516885.1:c.658+5484G>A | XP_011515187.1:n.658+5484G>A | |
| XM_011516886.1:c.571+5484G>A | XP_011515188.1:n.571+5484G>A | |
| XM_011516888.1:c.658+5484G>A | XP_011515190.1:n.658+5484G>A | |
| XM_011516891.1:c.658+5484G>A | XP_011515193.1:n.658+5484G>A | |
| XM_011516883.2:c.658+5484G>A | XP_011515185.1:n.658+5484G>A | |
| XM_011516884.2:c.658+5484G>A | XP_011515186.1:n.658+5484G>A | |
| XM_011516885.2:c.658+5484G>A | XP_011515187.1:n.658+5484G>A | |
| XM_011516886.3:c.571+5484G>A | XP_011515188.1:n.571+5484G>A | |
| XM_011516888.2:c.658+5484G>A | XP_011515190.1:n.658+5484G>A | |
| XM_017013150.2:c.532+5484G>A | XP_016868639.1:n.532+5484G>A | |
| XM_017013151.1:c.658+5484G>A | XP_016868640.1:n.658+5484G>A | |
| XR_001745487.1:n.1199+5484G>A | ||
| NM_152888.3:c.658+5484G>A MANE Select | NP_690848.1:n.658+5484G>A |