HGVS | Genome Assembly |
---|---|
NC_000003.12:g.165069110T>A , CM000665.2:g.165069110T>A | GRCh38 |
NC_000003.11:g.164786898T>A , CM000665.1:g.164786898T>A | GRCh37 |
NC_000003.10:g.166269592T>A | NCBI36 |
NG_017043.1:g.14386A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264382.8:c.341A>T MANE Select | ENSP00000264382.3:p.Tyr114Phe | |
ENST00000264382.7:c.341A>T | ENSP00000264382.3:p.Tyr114Phe | |
ENST00000476593.1:c.*216A>T | ENSP00000419450.1:n.*216A>T | |
NM_001041.3:c.341A>T | NP_001032.2:p.Tyr114Phe | |
XM_011513078.1:c.242A>T | XP_011511380.1:p.Tyr81Phe | |
XM_011513078.2:c.242A>T | XP_011511380.1:p.Tyr81Phe | |
NM_001041.4:c.341A>T MANE Select | NP_001032.2:p.Tyr114Phe |