gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.56206836 (SAS)
Genomes Max Group AF
0.56206836 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.40568389G>A , CM000668.2:g.40568389G>A | GRCh38 |
| NC_000006.11:g.40536128G>A , CM000668.1:g.40536128G>A | GRCh37 |
| NC_000006.10:g.40644106G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700335.1:c.-171+18552C>T | ENSP00000514953.1:n.-171+18552C>T | |
| ENST00000338305.7:c.-19+18552C>T MANE Select | ENSP00000345985.6:n.-19+18552C>T | |
| ENST00000338305.6:c.-19+18552C>T | ENSP00000345985.6:n.-19+18552C>T | |
| NM_020737.2:c.-19+18552C>T | NP_065788.1:n.-19+18552C>T | |
| NM_020737.3:c.-19+18552C>T MANE Select | NP_065788.1:n.-19+18552C>T |