gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.28813244G>T , CM000663.2:g.28813244G>T | GRCh38 |
| NC_000001.10:g.29139756G>T , CM000663.1:g.29139756G>T | GRCh37 |
| NC_000001.9:g.29012343G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234961.7:c.227+634G>T MANE Select | ENSP00000234961.2:n.227+634G>T | |
| ENST00000234961.6:c.227+634G>T | ENSP00000234961.2:n.227+634G>T | |
| ENST00000621425.1:c.227+634G>T | ENSP00000477970.1:n.227+634G>T | |
| NM_000911.3:c.227+634G>T | NP_000902.3:n.227+634G>T | |
| NM_000911.4:c.227+634G>T MANE Select | NP_000902.3:n.227+634G>T |