gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.11877124 (AMR)
Genomes Max Group AF
0.11877124 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56444961G>A , CM000674.2:g.56444961G>A | GRCh38 |
| NC_000012.11:g.56838745G>A , CM000674.1:g.56838745G>A | GRCh37 |
| NC_000012.10:g.55125012G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553532.6:c.-62+4349C>T MANE Select | ENSP00000450607.1:n.-62+4349C>T | |
| ENST00000229201.4:c.-62+4349C>T | ENSP00000229201.4:n.-62+4349C>T | |
| ENST00000553532.5:c.-62+4349C>T | ENSP00000450607.1:n.-62+4349C>T | |
| NM_003920.3:c.-62+4349C>T | NP_003911.2:n.-62+4349C>T | |
| XM_011538939.1:c.-62+4349C>T | XP_011537241.1:n.-62+4349C>T | |
| NM_001330295.1:c.-62+4349C>T | NP_001317224.1:n.-62+4349C>T | |
| NM_003920.4:c.-62+4349C>T | NP_003911.2:n.-62+4349C>T | |
| NR_138471.1:n.156+4349C>T | ||
| NM_003920.5:c.-62+4349C>T MANE Select | NP_003911.2:n.-62+4349C>T | |
| NM_001330295.2:c.-62+4349C>T | NP_001317224.1:n.-62+4349C>T | |
| NR_138471.2:n.117+4349C>T |