HGVS | Genome Assembly |
---|---|
NC_000004.12:g.52033457A>T , CM000666.2:g.52033457A>T | GRCh38 |
NC_000004.11:g.52899623A>T , CM000666.1:g.52899623A>T | GRCh37 |
NC_000004.10:g.52594380A>T | NCBI36 |
NG_008891.1:g.9863T>A , LRG_204:g.9863T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000381431.10:c.217T>A MANE Select | ENSP00000370839.6:p.Phe73Ile | |
ENST00000381431.9:c.217T>A | ENSP00000370839.5:p.Phe73Ile | |
ENST00000506357.5:c.203T>A | ||
ENST00000514133.1:c.184T>A | ENSP00000425818.1:p.Phe62Ile | |
NM_000232.4:c.217T>A , LRG_204t1:c.217T>A | NP_000223.1:p.Phe73Ile | |
XM_006714049.2:c.-191T>A | XP_006714112.1:n.-191T>A | |
XM_011534403.1:c.34-3594T>A | XP_011532705.1:n.34-3594T>A | |
XM_011534404.1:c.-168T>A | XP_011532706.1:n.-168T>A | |
NM_000232.5:c.217T>A MANE Select | NP_000223.1:p.Phe73Ile |