Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.62707647G>A , CM000676.2:g.62707647G>A | GRCh38 |
| NC_000014.8:g.63174365G>A , CM000676.1:g.63174365G>A | GRCh37 |
| NC_000014.7:g.62244118G>A | NCBI36 |
| NG_034062.1:g.342592C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_139318.5:c.2828C>T MANE Select | NP_647479.2:p.Ser943Leu |
| ENST00000322893.12:c.2828C>T MANE Select | ENSP00000321427.7:p.Ser943Leu |
| NM_139318.4:c.2828C>T | NP_647479.2:p.Ser943Leu |
| NM_172375.2:c.*795C>T | NP_758963.1:n.*795C>T |
| NM_172375.3:c.*795C>T | NP_758963.1:n.*795C>T |
| ENST00000322893.11:c.2828C>T | ENSP00000321427.7:p.Ser943Leu |
| ENST00000420622.6:c.2631C>T | ENSP00000395439.2:n.2631C>T |