HGVS | Genome Assembly |
---|---|
NC_000014.9:g.24259138G>T , CM000676.2:g.24259138G>T | GRCh38 |
NC_000014.8:g.24728344G>T , CM000676.1:g.24728344G>T | GRCh37 |
NC_000014.7:g.23798184G>T | NCBI36 |
NG_007150.1:g.9029C>A | |
NG_007150.2:g.9029C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000206765.11:c.1096C>A MANE Select | ENSP00000206765.6:p.Leu366Ile | |
ENST00000206765.10:c.1096C>A | ENSP00000206765.6:p.Leu366Ile | |
ENST00000544573.5:c.-28-750C>A | ENSP00000439446.1:n.-28-750C>A | |
ENST00000559136.1:c.169C>A | ENSP00000453337.1:p.Leu57Ile | |
NM_000359.2:c.1096C>A | NP_000350.1:p.Leu366Ile | |
NM_000359.3:c.1096C>A MANE Select | NP_000350.1:p.Leu366Ile |