gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.55374181 (AFR)
Genomes Max Group AF
0.55374181 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.42512193C>T , CM000664.2:g.42512193C>T | GRCh38 |
| NC_000002.11:g.42739333C>T , CM000664.1:g.42739333C>T | GRCh37 |
| NC_000002.10:g.42592837C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405592.5:c.-141+16939C>T | ENSP00000383973.1:n.-141+16939C>T | |
| NM_001282755.1:c.-141+16939C>T | NP_001269684.1:n.-141+16939C>T | |
| XM_005264459.2:c.-141+16939C>T | XP_005264516.1:n.-141+16939C>T | |
| NM_001282755.2:c.-141+16939C>T | NP_001269684.1:n.-141+16939C>T |