gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4632090A>C , CM000679.2:g.4632090A>C | GRCh38 |
| NC_000017.10:g.4535385A>C , CM000679.1:g.4535385A>C | GRCh37 |
| NC_000017.9:g.4482134A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293761.8:c.1642-34T>G MANE Select | ENSP00000293761.3:n.1642-34T>G | |
| ENST00000570836.6:c.1642-34T>G | ENSP00000458832.1:n.1642-34T>G | |
| ENST00000293761.7:c.1642-34T>G | ENSP00000293761.3:n.1642-34T>G | |
| ENST00000570836.5:c.1642-34T>G | ENSP00000458832.1:n.1642-34T>G | |
| ENST00000574640.1:c.1525-34T>G | ENSP00000460483.1:n.1525-34T>G | |
| NM_001140.3:c.1642-34T>G | NP_001131.3:n.1642-34T>G | |
| NM_001140.4:c.1642-34T>G | NP_001131.3:n.1642-34T>G | |
| NM_001140.5:c.1642-34T>G MANE Select | NP_001131.3:n.1642-34T>G |