HGVS | Genome Assembly |
---|---|
NC_000023.11:g.30304779A>G , CM000685.2:g.30304779A>G | GRCh38 |
NC_000023.10:g.30322896A>G , CM000685.1:g.30322896A>G | GRCh37 |
NC_000023.9:g.30232817A>G | NCBI36 |
NG_009814.1:g.9600T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378970.5:c.1213T>C MANE Select | ENSP00000368253.4:p.Trp405Arg | |
ENST00000378970.4:c.1213T>C | ENSP00000368253.4:p.Trp405Arg | |
NM_000475.4:c.1213T>C | NP_000466.2:p.Trp405Arg | |
NM_000475.5:c.1213T>C MANE Select | NP_000466.2:p.Trp405Arg |