Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129531904T>G , CM000665.2:g.129531904T>G | GRCh38 |
| NC_000003.11:g.129250747T>G , CM000665.1:g.129250747T>G | GRCh37 |
| NC_000003.10:g.130733437T>G | NCBI36 |
| NG_009115.1:g.8266T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.531-347T>G MANE Select | ENSP00000296271.3:n.531-347T>G | |
| ENST00000296271.3:c.531-347T>G | ENSP00000296271.3:n.531-347T>G | |
| NM_000539.3:c.531-347T>G MANE Select | NP_000530.1:n.531-347T>G |