dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50612068A>G , CM000665.2:g.50612068A>G | GRCh38 |
| NC_000003.11:g.50649499A>G , CM000665.1:g.50649499A>G | GRCh37 |
| NC_000003.10:g.50624503A>G | NCBI36 |
| NG_023194.1:g.4764T>C | |
| NG_051548.1:g.5207A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000446044.5:c.-436A>G | ENSP00000396467.1:n.-436A>G | |
| ENST00000486712.5:n.293A>G | ||
| NM_001243926.1:c.-436A>G | NP_001230855.1:n.-436A>G | |
| NM_001243926.2:c.-436A>G | NP_001230855.1:n.-436A>G |