HGVS | Genome Assembly |
---|---|
NC_000017.11:g.7454431G>C , CM000679.2:g.7454431G>C | GRCh38 |
NC_000017.10:g.7357750G>C , CM000679.1:g.7357750G>C | GRCh37 |
NC_000017.9:g.7298474G>C | NCBI36 |
NG_008026.1:g.14345G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000306071.7:c.955G>C MANE Select | ENSP00000304290.2:p.Val319Leu | |
ENST00000306071.6:c.955G>C | ENSP00000304290.2:p.Val319Leu | |
ENST00000536404.6:c.739G>C | ENSP00000439209.2:p.Val247Leu | |
ENST00000570557.5:c.618G>C | ||
ENST00000573209.1:n.1899G>C | ||
ENST00000576360.1:c.605-13G>C | ENSP00000459092.1:n.605-13G>C | |
NM_000747.2:c.955G>C | NP_000738.2:p.Val319Leu | |
NM_000747.3:c.955G>C MANE Select | NP_000738.2:p.Val319Leu |