gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002354 (SAS)
Exomes Max Group AF
0.00001543 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133537633G>T , CM000672.2:g.133537633G>T | GRCh38 |
| NC_000010.10:g.135351137G>T , CM000672.1:g.135351137G>T | GRCh37 |
| NC_000010.9:g.135201127G>T | NCBI36 |
| NG_008383.1:g.15271G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252945.8:c.1156-118G>T MANE Select | ENSP00000252945.3:n.1156-118G>T | |
| ENST00000252945.7:c.1156-118G>T | ENSP00000252945.3:n.1156-118G>T | |
| ENST00000368520.1:n.1217-118G>T | ||
| ENST00000418356.1:c.745-118G>T | ENSP00000397299.1:n.745-118G>T | |
| ENST00000421586.5:c.895-118G>T | ENSP00000412754.1:n.895-118G>T | |
| ENST00000463117.6:c.1156-118G>T | ENSP00000440689.1:n.1156-118G>T | |
| ENST00000469258.1:n.134G>T | ||
| ENST00000541080.5:c.572-118G>T | ||
| NM_000773.3:c.1156-118G>T | NP_000764.1:n.1156-118G>T | |
| NM_000773.4:c.1156-118G>T MANE Select | NP_000764.1:n.1156-118G>T |