HGVS | Genome Assembly |
---|---|
NC_000019.10:g.10115486A>G , CM000681.2:g.10115486A>G | GRCh38 |
NC_000019.9:g.10226162A>G , CM000681.1:g.10226162A>G | GRCh37 |
NC_000019.8:g.10087162A>G | NCBI36 |
NG_047007.1:g.8966A>G | |
NG_051197.1:g.9439T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000253108.9:c.940T>C MANE Select | ENSP00000253108.3:p.Trp314Arg | |
ENST00000253108.8:c.940T>C | ENSP00000253108.3:p.Trp314Arg | |
ENST00000590158.1:n.959T>C | ||
ENST00000593054.5:c.334T>C | ENSP00000467187.1:p.Trp112Arg | |
NM_003755.3:c.940T>C | NP_003746.2:p.Trp314Arg | |
NM_003755.4:c.940T>C | NP_003746.2:p.Trp314Arg | |
NM_003755.5:c.940T>C MANE Select | NP_003746.2:p.Trp314Arg |