HGVS | Genome Assembly |
---|---|
NC_000002.12:g.232523852C>A , CM000664.2:g.232523852C>A | GRCh38 |
NC_000002.11:g.233388562C>A , CM000664.1:g.233388562C>A | GRCh37 |
NC_000002.10:g.233096806C>A | NCBI36 |
NG_008028.1:g.2641C>A | |
NG_031969.1:g.8390C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000617714.2:c.1093C>A MANE Select | ENSP00000479745.1:p.Leu365Ile | |
ENST00000449534.6:c.1096C>A | ENSP00000473410.1:p.Leu366Ile | |
ENST00000617714.1:c.1093C>A | ENSP00000479745.1:p.Leu365Ile | |
NM_001195129.1:c.1093C>A | NP_001182058.1:p.Leu365Ile | |
NM_001195129.2:c.1093C>A MANE Select | NP_001182058.1:p.Leu365Ile | |
NM_001369848.1:c.1096C>A | NP_001356777.1:p.Leu366Ile |