HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94941883T>G , CM000672.2:g.94941883T>G | GRCh38 |
NC_000010.10:g.96701640T>G , CM000672.1:g.96701640T>G | GRCh37 |
NC_000010.9:g.96691630T>G | NCBI36 |
NG_008385.1:g.8226T>G | |
NG_008385.2:g.8726T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000260682.8:c.194T>G MANE Select | ENSP00000260682.6:p.Phe65Cys | |
ENST00000643112.1:c.194T>G | ENSP00000496202.1:p.Phe65Cys | |
ENST00000645207.1:n.347T>G | ||
ENST00000260682.6:c.194T>G | ENSP00000260682.6:p.Phe65Cys | |
ENST00000461906.1:n.219T>G | ||
NM_000771.3:c.194T>G | NP_000762.2:p.Phe65Cys | |
NM_000771.4:c.194T>G MANE Select | NP_000762.2:p.Phe65Cys |