Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23386014C>T , CM000676.2:g.23386014C>T | GRCh38 |
| NC_000014.8:g.23855223C>T , CM000676.1:g.23855223C>T | GRCh37 |
| NC_000014.7:g.22925063C>T | NCBI36 |
| NG_023444.1:g.27264G>A , LRG_389:g.27264G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002471.4:c.5077G>A MANE Select | NP_002462.2:p.Val1693Met |
| ENST00000405093.9:c.5077G>A MANE Select | ENSP00000386041.3:p.Val1693Met |
| NM_002471.3:c.5077G>A , LRG_389t1:c.5077G>A | NP_002462.2:p.Val1693Met |
| ENST00000356287.3:c.5077G>A | ENSP00000348634.3:p.Val1693Met |
| ENST00000405093.7:c.5077G>A | ENSP00000386041.3:p.Val1693Met |