HGVS | Genome Assembly |
---|---|
NC_000004.12:g.52033556A>T , CM000666.2:g.52033556A>T | GRCh38 |
NC_000004.11:g.52899722A>T , CM000666.1:g.52899722A>T | GRCh37 |
NC_000004.10:g.52594479A>T | NCBI36 |
NG_008891.1:g.9764T>A , LRG_204:g.9764T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000381431.10:c.118T>A MANE Select | ENSP00000370839.6:p.Phe40Ile | |
ENST00000381431.9:c.118T>A | ENSP00000370839.5:p.Phe40Ile | |
ENST00000506357.5:c.104T>A | ||
ENST00000514133.1:c.85T>A | ENSP00000425818.1:p.Phe29Ile | |
NM_000232.4:c.118T>A , LRG_204t1:c.118T>A | NP_000223.1:p.Phe40Ile | |
XM_011534403.1:c.34-3693T>A | XP_011532705.1:n.34-3693T>A | |
NM_000232.5:c.118T>A MANE Select | NP_000223.1:p.Phe40Ile |