HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32814470T>G , CM000668.2:g.32814470T>G | GRCh38 |
NC_000006.11:g.32782247T>G , CM000668.1:g.32782247T>G | GRCh37 |
NC_000006.10:g.32890225T>G | NCBI36 |
NG_009793.3:g.29301A>C | |
NG_012008.1:g.7579A>C | |
NG_009793.4:g.29301A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000438763.7:c.493A>C MANE Select | ENSP00000390020.2:p.Arg165= | |
ENST00000648009.1:c.493A>C | ENSP00000496848.1:p.Arg165= | |
ENST00000438763.6:c.493A>C | ENSP00000390020.2:p.Arg165= | |
ENST00000447394.1:c.443A>C | ||
ENST00000452392.2:c.2314A>C | ENSP00000391806.2:p.Arg772= | |
ENST00000475235.1:n.530A>C | ||
ENST00000488325.5:c.*264A>C | ENSP00000436618.1:n.*264A>C | |
NM_002120.3:c.493A>C | NP_002111.1:p.Arg165= | |
NM_002120.4:c.493A>C MANE Select | NP_002111.1:p.Arg165= |