Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.70950408A>T , CM000668.2:g.70950408A>T | GRCh38 |
| NC_000006.11:g.71660111A>T , CM000668.1:g.71660111A>T | GRCh37 |
| NC_000006.10:g.71716832A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_080742.3:c.591+5431T>A MANE Select | NP_542780.1:n.591+5431T>A |
| ENST00000230053.11:c.591+5431T>A MANE Select | ENSP00000230053.6:n.591+5431T>A |
| NM_080742.2:c.591+5431T>A | NP_542780.1:n.591+5431T>A |
| ENST00000230053.10:c.591+5431T>A | ENSP00000230053.6:n.591+5431T>A |
| ENST00000615536.1:c.375+5647T>A | ENSP00000481320.1:n.375+5647T>A |
| XM_006715346.2:c.591+5431T>A | XP_006715409.1:n.591+5431T>A |