HGVS | Genome Assembly |
---|---|
NC_000013.11:g.20188902T>A , CM000675.2:g.20188902T>A | GRCh38 |
NC_000013.10:g.20763041T>A , CM000675.1:g.20763041T>A | GRCh37 |
NC_000013.9:g.19661041T>A | NCBI36 |
NG_008358.1:g.9074A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382844.2:c.680A>T | ENSP00000372295.1:p.Ter227Leu | |
ENST00000382848.5:c.680A>T MANE Select | ENSP00000372299.4:p.Ter227Leu | |
ENST00000382844.1:c.680A>T | ENSP00000372295.1:p.Ter227Leu | |
ENST00000382848.4:c.680A>T | ENSP00000372299.4:p.Ter227Leu | |
NM_004004.5:c.680A>T | NP_003995.2:p.Ter227Leu | |
XM_011535049.1:c.680A>T | XP_011533351.1:p.Ter227Leu | |
XM_011535049.2:c.680A>T | XP_011533351.1:p.Ter227Leu | |
NM_004004.6:c.680A>T MANE Select | NP_003995.2:p.Ter227Leu |