HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41624202C= , CM000679.2:g.41624202C= | GRCh38 |
NC_000017.10:g.39780454C= , CM000679.1:g.39780454C= | GRCh37 |
NC_000017.9:g.37033980C= | NCBI36 |
NG_008625.1:g.5429G= | |
NG_009090.2:g.167511G= , LRG_401:g.167511G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000311208.13:c.308G= MANE Select | ENSP00000308452.8:p.Arg103= | |
ENST00000311208.12:c.308G= | ENSP00000308452.8:p.Arg103= | |
ENST00000463128.5:c.-308G= | ENSP00000468672.1:n.-308G= | |
ENST00000491673.1:n.374G= | ||
ENST00000493253.5:n.95G= | ||
ENST00000540235.5:c.72-11G= | ENSP00000441751.2:n.72-11G= | |
ENST00000577817.3:c.263G= | ENSP00000467418.1:p.Arg88= | |
NM_000422.2:c.308G= | NP_000413.1:p.Arg103= | |
NM_000422.3:c.308G= MANE Select | NP_000413.1:p.Arg103= |