Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.16525376T>C , CM000681.2:g.16525376T>C | GRCh38 |
| NC_000019.9:g.16636187T>C , CM000681.1:g.16636187T>C | GRCh37 |
| NC_000019.8:g.16497187T>C | NCBI36 |
| NG_031959.2:g.107829A>G , LRG_422:g.107829A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546361.7:c.1607A>G MANE Select | ENSP00000439856.2:p.Asn536Ser | |
| ENST00000198939.6:c.1640A>G | ENSP00000198939.6:p.Asn547Ser | |
| ENST00000409035.1:c.*194-6024A>G | ENSP00000386951.2:n.*194-6024A>G | |
| ENST00000544299.5:n.409A>G | ||
| ENST00000546361.6:c.1607A>G | ENSP00000439856.2:p.Asn536Ser | |
| NM_006387.5:c.1607A>G | NP_006378.3:p.Asn536Ser | |
| NM_006387.6:c.1607A>G MANE Select | NP_006378.3:p.Asn536Ser |