HGVS | Genome Assembly |
---|---|
NC_000019.10:g.40848638T>A , CM000681.2:g.40848638T>A | GRCh38 |
NC_000019.9:g.41354543T>A , CM000681.1:g.41354543T>A | GRCh37 |
NC_000019.8:g.46046383T>A | NCBI36 |
NG_008377.1:g.6810A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000301141.10:c.469A>T MANE Select | ENSP00000301141.4:p.Ile157Phe | |
ENST00000301141.9:c.469A>T | ENSP00000301141.4:p.Ile157Phe | |
ENST00000596719.5:n.320A>T | ||
ENST00000600495.1:c.*281A>T | ENSP00000472905.1:n.*281A>T | |
ENST00000601627.1:c.120-43353T>A | ||
ENST00000610301.1:c.469A>T | ENSP00000477899.1:p.Ile157Phe | |
NM_000762.5:c.469A>T | NP_000753.3:p.Ile157Phe | |
NM_000762.6:c.469A>T MANE Select | NP_000753.3:p.Ile157Phe |