Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107920012T>A , CM000669.2:g.107920012T>A | GRCh38 |
| NC_000007.13:g.107560457T>A , CM000669.1:g.107560457T>A | GRCh37 |
| NC_000007.12:g.107347693T>A | NCBI36 |
| NG_008045.1:g.33872T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000205402.10:c.*753T>A MANE Select | ENSP00000205402.3:n.*753T>A | |
| ENST00000205402.9:c.*753T>A | ENSP00000205402.3:n.*753T>A | |
| ENST00000417551.5:c.*124+629T>A | ENSP00000390667.1:n.*124+629T>A | |
| NM_000108.4:c.*753T>A | NP_000099.2:n.*753T>A | |
| NM_001289750.1:c.*753T>A | NP_001276679.1:n.*753T>A | |
| NM_001289751.1:c.*753T>A | NP_001276680.1:n.*753T>A | |
| NM_001289752.1:c.*753T>A | NP_001276681.1:n.*753T>A | |
| NM_000108.5:c.*753T>A MANE Select | NP_000099.2:n.*753T>A |