Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98576823A>C , CM000671.2:g.98576823A>C | GRCh38 |
| NC_000009.11:g.101339105A>C , CM000671.1:g.101339105A>C | GRCh37 |
| NC_000009.10:g.100378926A>C | NCBI36 |
| NG_016426.1:g.137375T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005458.8:c.459+1112T>G MANE Select | NP_005449.5:n.459+1112T>G |
| ENST00000259455.4:c.459+1112T>G MANE Select | ENSP00000259455.2:n.459+1112T>G |
| NM_005458.7:c.459+1112T>G | NP_005449.5:n.459+1112T>G |
| ENST00000259455.3:c.459+1112T>G | ENSP00000259455.2:n.459+1112T>G |
| ENST00000634227.1:n.233+1112T>G | |
| ENST00000637410.1:n.237+1112T>G | |
| ENST00000637717.1:c.75+1112T>G | ENSP00000490789.1:n.75+1112T>G |