Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4946332A>T , CM000679.2:g.4946332A>T | GRCh38 |
| NC_000017.10:g.4849627A>T , CM000679.1:g.4849627A>T | GRCh37 |
| NC_000017.9:g.4790372A>T | NCBI36 |
| NG_012063.2:g.5242A>T | |
| NG_032945.1:g.7755T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005022.4:c.325+296T>A MANE Select | NP_005013.1:n.325+296T>A |
| ENST00000225655.6:c.325+296T>A MANE Select | ENSP00000225655.5:n.325+296T>A |
| NM_001375991.1:c.*75T>A | NP_001362920.1:n.*75T>A |
| NM_005022.3:c.325+296T>A | NP_005013.1:n.325+296T>A |
| ENST00000225655.5:c.325+296T>A | ENSP00000225655.5:n.325+296T>A |
| ENST00000574872.1:c.217+296T>A | ENSP00000465019.1:n.217+296T>A |
| XM_017024761.1:c.*75T>A | XP_016880250.1:n.*75T>A |