gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.32111412 (EAS)
Genomes Max Group AF
0.32111412 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152806050C>T , CM000663.2:g.152806050C>T | GRCh38 |
| NC_000001.10:g.152778526C>T , CM000663.1:g.152778526C>T | GRCh37 |
| NC_000001.9:g.151045150C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000607093.2:c.-20-552G>A MANE Select | ENSP00000475270.1:n.-20-552G>A | |
| ENST00000606576.1:c.-20-552G>A | ENSP00000476034.1:n.-20-552G>A | |
| NM_001276331.1:c.-20-552G>A | NP_001263260.1:n.-20-552G>A | |
| NM_178351.3:c.-20-552G>A | NP_848128.1:n.-20-552G>A | |
| NM_001276331.2:c.-20-552G>A | NP_001263260.1:n.-20-552G>A | |
| NM_178351.4:c.-20-552G>A MANE Select | NP_848128.1:n.-20-552G>A |