gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.62200678 (EAS)
Genomes Max Group AF
0.62200678 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.863635C>T , CM000671.2:g.863635C>T | GRCh38 |
| NC_000009.11:g.863635C>T , CM000671.1:g.863635C>T | GRCh37 |
| NC_000009.10:g.853635C>T | NCBI36 |
| NG_009221.1:g.26946C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382276.8:c.538+16492C>T MANE Select | ENSP00000371711.3:n.538+16492C>T | |
| ENST00000382276.7:c.538+16492C>T | ENSP00000371711.3:n.538+16492C>T | |
| ENST00000564322.1:n.687+16492C>T | ||
| ENST00000569227.1:c.64+16492C>T | ENSP00000454701.1:n.64+16492C>T | |
| NM_021951.2:c.538+16492C>T | NP_068770.2:n.538+16492C>T | |
| XM_006716732.1:c.538+16492C>T | XP_006716795.1:n.538+16492C>T | |
| XM_011517770.1:c.586+16492C>T | XP_011516072.1:n.586+16492C>T | |
| XM_011517771.1:c.586+16492C>T | XP_011516073.1:n.586+16492C>T | |
| XM_011517772.1:c.586+16492C>T | XP_011516074.1:n.586+16492C>T | |
| XM_011517773.1:c.64+16492C>T | XP_011516075.1:n.64+16492C>T | |
| NM_001363767.1:c.64+16492C>T | NP_001350696.1:n.64+16492C>T | |
| XM_011517773.3:c.64+16492C>T | XP_011516075.1:n.64+16492C>T | |
| XM_017014374.1:c.586+16492C>T | XP_016869863.1:n.586+16492C>T | |
| XM_017014375.1:c.538+16492C>T | XP_016869864.1:n.538+16492C>T | |
| XM_024447434.1:c.-9+5167C>T | XP_024303202.1:n.-9+5167C>T | |
| NM_021951.3:c.538+16492C>T MANE Select | NP_068770.2:n.538+16492C>T |