HGVS | Genome Assembly |
---|---|
NC_000020.11:g.10643825T>A , CM000682.2:g.10643825T>A | GRCh38 |
NC_000020.10:g.10624473T>A , CM000682.1:g.10624473T>A | GRCh37 |
NC_000020.9:g.10572473T>A | NCBI36 |
NG_007496.1:g.35222A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000254958.10:c.2411A>T MANE Select | ENSP00000254958.4:p.Tyr804Phe | |
ENST00000617965.2:n.3000A>T | ||
ENST00000254958.9:c.2411A>T | ENSP00000254958.4:p.Tyr804Phe | |
ENST00000423891.6:n.2277A>T | ||
NM_000214.2:c.2411A>T | NP_000205.1:p.Tyr804Phe | |
NM_000214.3:c.2411A>T MANE Select | NP_000205.1:p.Tyr804Phe |