HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41624138G= , CM000679.2:g.41624138G= | GRCh38 |
NC_000017.10:g.39780390G= , CM000679.1:g.39780390G= | GRCh37 |
NC_000017.9:g.37033916G= | NCBI36 |
NG_008625.1:g.5493C= | |
NG_009090.2:g.167575C= , LRG_401:g.167575C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000311208.13:c.372C= MANE Select | ENSP00000308452.8:p.Ala124= | |
ENST00000311208.12:c.372C= | ENSP00000308452.8:p.Ala124= | |
ENST00000463128.5:c.-244C= | ENSP00000468672.1:n.-244C= | |
ENST00000491673.1:n.438C= | ||
ENST00000493253.5:n.159C= | ||
ENST00000540235.5:c.123C= | ENSP00000441751.2:p.Ala41= | |
ENST00000577817.3:c.327C= | ENSP00000467418.1:p.Ala109= | |
NM_000422.2:c.372C= | NP_000413.1:p.Ala124= | |
NM_000422.3:c.372C= MANE Select | NP_000413.1:p.Ala124= |