HGVS | Genome Assembly |
---|---|
NC_000020.11:g.10412977T>C , CM000682.2:g.10412977T>C | GRCh38 |
NC_000020.10:g.10393625T>C , CM000682.1:g.10393625T>C | GRCh37 |
NC_000020.9:g.10341625T>C | NCBI36 |
NG_009109.1:g.26242A>G | |
NG_009109.2:g.26242A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651692.1:c.538A>G | ENSP00000498849.1:p.Arg180Gly | |
ENST00000652676.1:n.459-277A>G | ||
ENST00000347364.7:c.538A>G MANE Select | ENSP00000246062.4:p.Arg180Gly | |
ENST00000399054.6:c.538A>G | ENSP00000382008.2:p.Arg180Gly | |
NM_018848.3:c.538A>G | NP_061336.1:p.Arg180Gly | |
NM_170784.2:c.538A>G | NP_740754.1:p.Arg180Gly | |
NR_072977.1:n.364-4174A>G | ||
NR_072977.2:n.347-4174A>G | ||
NM_170784.3:c.538A>G MANE Select | NP_740754.1:p.Arg180Gly |