HGVS | Genome Assembly |
---|---|
NC_000017.11:g.7455883T>C , CM000679.2:g.7455883T>C | GRCh38 |
NC_000017.10:g.7359202T>C , CM000679.1:g.7359202T>C | GRCh37 |
NC_000017.9:g.7299926T>C | NCBI36 |
NG_008026.1:g.15797T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000306071.7:c.1307T>C MANE Select | ENSP00000304290.2:p.Val436Ala | |
ENST00000306071.6:c.1307T>C | ENSP00000304290.2:p.Val436Ala | |
ENST00000536404.6:c.1091T>C | ENSP00000439209.2:p.Val364Ala | |
ENST00000575379.1:c.-86T>C | ENSP00000461751.1:n.-86T>C | |
ENST00000576360.1:c.944T>C | ENSP00000459092.1:p.Val315Ala | |
NM_000747.2:c.1307T>C | NP_000738.2:p.Val436Ala | |
NM_000747.3:c.1307T>C MANE Select | NP_000738.2:p.Val436Ala |