Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132868709A>T , CM000667.2:g.132868709A>T | GRCh38 |
| NC_000005.9:g.132204401A>T , CM000667.1:g.132204401A>T | GRCh37 |
| NC_000005.8:g.132232300A>T | NCBI36 |
| NG_012221.1:g.7083A>T | |
| NG_047051.1:g.3176T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378670.8:c.*1127A>T MANE Select | ENSP00000367939.3:n.*1127A>T | |
| NM_014402.4:c.*1127A>T | NP_055217.2:n.*1127A>T | |
| NM_014402.5:c.*1127A>T MANE Select | NP_055217.2:n.*1127A>T |