gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.86813591 (EAS)
Genomes Max Group AF
0.86813591 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150992309A>T , CM000669.2:g.150992309A>T | GRCh38 |
| NC_000007.13:g.150689397A>T , CM000669.1:g.150689397A>T | GRCh37 |
| NC_000007.12:g.150320330A>T | NCBI36 |
| NG_011992.1:g.6251A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297494.8:c.-52+1009A>T MANE Select | ENSP00000297494.3:n.-52+1009A>T | |
| ENST00000297494.7:c.-52+1009A>T | ENSP00000297494.3:n.-52+1009A>T | |
| ENST00000461406.5:c.-149+1009A>T | ENSP00000417143.1:n.-149+1009A>T | |
| NM_000603.4:c.-52+1009A>T | NP_000594.2:n.-52+1009A>T | |
| NM_000603.5:c.-52+1009A>T MANE Select | NP_000594.2:n.-52+1009A>T |