HGVS | Genome Assembly |
---|---|
NC_000011.10:g.121307234A>T , CM000673.2:g.121307234A>T | GRCh38 |
NC_000011.9:g.121177943A>T , CM000673.1:g.121177943A>T | GRCh37 |
NC_000011.8:g.120683153A>T | NCBI36 |
NG_009446.1:g.19556A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264027.9:c.622A>T MANE Select | ENSP00000264027.4:p.Ile208Phe | |
ENST00000264027.8:c.622A>T | ENSP00000264027.4:p.Ile208Phe | |
ENST00000392789.2:c.622A>T | ENSP00000376539.2:p.Ile208Phe | |
ENST00000527183.1:n.915A>T | ||
ENST00000528991.1:n.315A>T | ||
ENST00000534230.5:c.622A>T | ENSP00000432550.1:p.Ile208Phe | |
NM_001024956.2:c.622A>T | NP_001020127.1:p.Ile208Phe | |
NM_006918.4:c.622A>T | NP_008849.2:p.Ile208Phe | |
NM_006918.5:c.622A>T MANE Select | NP_008849.2:p.Ile208Phe | |
NM_001024956.3:c.622A>T | NP_001020127.1:p.Ile208Phe |