HGVS | Genome Assembly |
---|---|
NC_000001.11:g.6112178A>T , CM000663.2:g.6112178A>T | GRCh38 |
NC_000001.10:g.6172238A>T , CM000663.1:g.6172238A>T | GRCh37 |
NC_000001.9:g.6094825A>T | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000262450.8:c.5102T>A MANE Select | ENSP00000262450.3:p.Phe1701Tyr | |
ENST00000262450.7:c.5102T>A | ENSP00000262450.3:p.Phe1701Tyr | |
ENST00000377999.5:c.2005T>A | ENSP00000367238.2:n.2005T>A | |
ENST00000462991.5:c.3355T>A | ||
ENST00000496404.1:c.3820T>A | ENSP00000433676.1:n.3820T>A | |
NM_015557.2:c.5102T>A | NP_056372.1:p.Phe1701Tyr | |
NM_015557.3:c.5102T>A MANE Select | NP_056372.1:p.Phe1701Tyr |