HGVS | Genome Assembly |
---|---|
NC_000014.9:g.21312496C>T , CM000676.2:g.21312496C>T | GRCh38 |
NC_000014.8:g.21780655C>T , CM000676.1:g.21780655C>T | GRCh37 |
NC_000014.7:g.20850495C>T | NCBI36 |
NG_008933.1:g.29520C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000400017.7:c.1141C>T MANE Select | ENSP00000382895.2:p.Leu381Phe | |
ENST00000400017.6:c.1141C>T | ENSP00000382895.2:p.Leu381Phe | |
ENST00000556336.5:c.1060C>T | ENSP00000450445.1:p.Leu354Phe | |
ENST00000557771.5:c.1060C>T | ENSP00000451219.1:p.Leu354Phe | |
NM_020366.3:c.1141C>T | NP_065099.3:p.Leu381Phe | |
XM_011536983.1:c.1108C>T | XP_011535285.1:p.Leu370Phe | |
NM_020366.4:c.1141C>T MANE Select | NP_065099.3:p.Leu381Phe |