HGVS | Genome Assembly |
---|---|
NC_000004.12:g.99307841C>A , CM000666.2:g.99307841C>A | GRCh38 |
NC_000004.11:g.100228998C>A , CM000666.1:g.100228998C>A | GRCh37 |
NC_000004.10:g.100448021C>A | NCBI36 |
NG_011435.1:g.18575G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305046.13:c.1127G>T MANE Select | ENSP00000306606.8:p.Ter376Leu | |
ENST00000305046.12:c.1127G>T | ENSP00000306606.8:p.Ter376Leu | |
ENST00000506651.5:c.1007G>T | ENSP00000425998.2:p.Ter336Leu | |
ENST00000515694.4:n.3222G>T | ||
ENST00000625860.2:c.1007G>T | ENSP00000486614.1:p.Ter336Leu | |
NM_000668.5:c.1127G>T | NP_000659.2:p.Ter376Leu | |
NM_001286650.1:c.1007G>T | NP_001273579.1:p.Ter336Leu | |
NM_000668.6:c.1127G>T MANE Select | NP_000659.2:p.Ter376Leu | |
NM_001286650.2:c.1007G>T | NP_001273579.1:p.Ter336Leu |