Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132868585G>A , CM000667.2:g.132868585G>A | GRCh38 |
| NC_000005.9:g.132204277G>A , CM000667.1:g.132204277G>A | GRCh37 |
| NC_000005.8:g.132232176G>A | NCBI36 |
| NG_012221.1:g.6959G>A | |
| NG_047051.1:g.3300C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378670.8:c.*1003G>A MANE Select | ENSP00000367939.3:n.*1003G>A | |
| NM_014402.4:c.*1003G>A | NP_055217.2:n.*1003G>A | |
| NM_014402.5:c.*1003G>A MANE Select | NP_055217.2:n.*1003G>A |