HGVS | Genome Assembly |
---|---|
NC_000019.10:g.49636668A>T , CM000681.2:g.49636668A>T | GRCh38 |
NC_000019.9:g.50139925A>T , CM000681.1:g.50139925A>T | GRCh37 |
NC_000019.8:g.54831737A>T | NCBI36 |
NG_042222.1:g.8476T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000246792.4:c.404T>A MANE Select | ENSP00000246792.2:p.Phe135Tyr | |
ENST00000246792.3:c.404T>A | ENSP00000246792.2:p.Phe135Tyr | |
ENST00000601532.1:n.544T>A | ||
NM_006270.3:c.404T>A | NP_006261.1:p.Phe135Tyr | |
NM_006270.4:c.404T>A | NP_006261.1:p.Phe135Tyr | |
NM_006270.5:c.404T>A MANE Select | NP_006261.1:p.Phe135Tyr |