HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41624139G= , CM000679.2:g.41624139G= | GRCh38 |
NC_000017.10:g.39780391G= , CM000679.1:g.39780391G= | GRCh37 |
NC_000017.9:g.37033917G= | NCBI36 |
NG_008625.1:g.5492C= | |
NG_009090.2:g.167574C= , LRG_401:g.167574C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000311208.13:c.371C= MANE Select | ENSP00000308452.8:p.Ala124= | |
ENST00000311208.12:c.371C= | ENSP00000308452.8:p.Ala124= | |
ENST00000463128.5:c.-245C= | ENSP00000468672.1:n.-245C= | |
ENST00000491673.1:n.437C= | ||
ENST00000493253.5:n.158C= | ||
ENST00000540235.5:c.122C= | ENSP00000441751.2:p.Ala41= | |
ENST00000577817.3:c.326C= | ENSP00000467418.1:p.Ala109= | |
NM_000422.2:c.371C= | NP_000413.1:p.Ala124= | |
NM_000422.3:c.371C= MANE Select | NP_000413.1:p.Ala124= |