Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.62707521T>A , CM000676.2:g.62707521T>A | GRCh38 |
| NC_000014.8:g.63174239T>A , CM000676.1:g.63174239T>A | GRCh37 |
| NC_000014.7:g.62243992T>A | NCBI36 |
| NG_034062.1:g.342718A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322893.12:c.2954A>T MANE Select | ENSP00000321427.7:p.Glu985Val | |
| ENST00000322893.11:c.2954A>T | ENSP00000321427.7:p.Glu985Val | |
| NM_139318.4:c.2954A>T | NP_647479.2:p.Glu985Val | |
| NM_172375.2:c.*921A>T | NP_758963.1:n.*921A>T | |
| NM_139318.5:c.2954A>T MANE Select | NP_647479.2:p.Glu985Val | |
| NM_172375.3:c.*921A>T | NP_758963.1:n.*921A>T |