HGVS | Genome Assembly |
---|---|
NC_000006.12:g.3154578T>A , CM000668.2:g.3154578T>A | GRCh38 |
NC_000006.11:g.3154812T>A , CM000668.1:g.3154812T>A | GRCh37 |
NC_000006.10:g.3099811T>A | NCBI36 |
NG_042223.1:g.7972A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000333628.4:c.623A>T MANE Select | ENSP00000369703.2:p.Tyr208Phe | |
ENST00000679400.1:n.679A>T | ||
ENST00000679907.1:n.1011A>T | ||
ENST00000680036.1:n.1405A>T | ||
ENST00000680967.1:n.1713A>T | ||
ENST00000333628.3:c.623A>T | ENSP00000369703.2:p.Tyr208Phe | |
NM_001069.2:c.623A>T | NP_001060.1:p.Tyr208Phe | |
NM_001310315.1:c.368A>T | NP_001297244.1:p.Tyr123Phe | |
NM_001069.3:c.623A>T MANE Select | NP_001060.1:p.Tyr208Phe | |
NM_001310315.2:c.368A>T | NP_001297244.1:p.Tyr123Phe |