HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41612631T>A , CM000679.2:g.41612631T>A | GRCh38 |
NC_000017.10:g.39768883T>A , CM000679.1:g.39768883T>A | GRCh37 |
NC_000017.9:g.37022409T>A | NCBI36 |
NG_008301.1:g.5197A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301653.9:c.58A>T MANE Select | ENSP00000301653.3:p.Ile20Phe | |
ENST00000301653.8:c.58A>T | ENSP00000301653.3:p.Ile20Phe | |
ENST00000588319.1:n.135A>T | ||
ENST00000590990.1:c.58A>T | ENSP00000467105.1:p.Ile20Phe | |
ENST00000593067.1:c.-313+159A>T | ENSP00000467124.1:n.-313+159A>T | |
NM_005557.3:c.58A>T | NP_005548.2:p.Ile20Phe | |
NM_005557.4:c.58A>T MANE Select | NP_005548.2:p.Ile20Phe |