HGVS | Genome Assembly |
---|---|
NC_000017.11:g.7454315C>T , CM000679.2:g.7454315C>T | GRCh38 |
NC_000017.10:g.7357634C>T , CM000679.1:g.7357634C>T | GRCh37 |
NC_000017.9:g.7298358C>T | NCBI36 |
NG_008026.1:g.14229C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000306071.7:c.839C>T MANE Select | ENSP00000304290.2:p.Ser280Leu | |
ENST00000306071.6:c.839C>T | ENSP00000304290.2:p.Ser280Leu | |
ENST00000536404.6:c.623C>T | ENSP00000439209.2:p.Ser208Leu | |
ENST00000570557.5:c.502C>T | ||
ENST00000573209.1:n.1783C>T | ||
ENST00000576360.1:c.605-129C>T | ENSP00000459092.1:n.605-129C>T | |
NM_000747.2:c.839C>T | NP_000738.2:p.Ser280Leu | |
NM_000747.3:c.839C>T MANE Select | NP_000738.2:p.Ser280Leu |