HGVS | Genome Assembly |
---|---|
NC_000004.12:g.68670271C>A , CM000666.2:g.68670271C>A | GRCh38 |
NC_000004.11:g.69535989C>A , CM000666.1:g.69535989C>A | GRCh37 |
NC_000004.10:g.69218584C>A | NCBI36 |
NG_052676.1:g.5506G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000338206.6:c.348G>T MANE Select | ENSP00000341045.5:p.Leu116Phe | |
ENST00000338206.5:c.348G>T | ENSP00000341045.5:p.Leu116Phe | |
ENST00000616841.4:c.348G>T | ENSP00000482004.1:p.Leu116Phe | |
NM_001076.3:c.348G>T | NP_001067.2:p.Leu116Phe | |
NM_001076.4:c.348G>T MANE Select | NP_001067.2:p.Leu116Phe |