HGVS | Genome Assembly |
---|---|
NC_000011.10:g.17642193C= , CM000673.2:g.17642193C= | GRCh38 |
NC_000011.9:g.17663740C= , CM000673.1:g.17663740C= | GRCh37 |
NC_000011.8:g.17620316C= | NCBI36 |
NG_033191.1:g.99821C= | |
NG_033191.2:g.99821C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000399391.7:c.8398C= | ENSP00000382323.2:p.Leu2800= | |
ENST00000399397.6:c.8362C= MANE Select | ENSP00000382329.2:p.Leu2788= | |
ENST00000399391.6:c.8398C= | ENSP00000382323.2:p.Leu2800= | |
ENST00000399397.5:c.8362C= | ENSP00000382329.2:p.Leu2788= | |
NM_001277269.1:c.8398C= | NP_001264198.1:p.Leu2800= | |
NM_001292063.1:c.8362C= | NP_001278992.1:p.Leu2788= | |
NM_001277269.2:c.8398C= | NP_001264198.1:p.Leu2800= | |
NM_001292063.2:c.8362C= MANE Select | NP_001278992.1:p.Leu2788= |