Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45890805C>T , CM000681.2:g.45890805C>T | GRCh38 |
| NC_000019.9:g.46394063C>T , CM000681.1:g.46394063C>T | GRCh37 |
| NC_000019.8:g.51085903C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001012643.4:c.1018G>A MANE Select | NP_001012661.1:p.Val340Met |
| ENST00000322217.6:c.1018G>A MANE Select | ENSP00000325402.4:p.Val340Met |
| NM_001012643.3:c.1018G>A | NP_001012661.1:p.Val340Met |
| ENST00000322217.5:c.1018G>A | ENSP00000325402.4:p.Val340Met |
| XM_017026742.2:c.1447G>A | XP_016882231.1:p.Val483Met |
| XM_017026743.2:c.*156G>A | XP_016882232.1:n.*156G>A |