HGVS | Genome Assembly |
---|---|
NC_000023.11:g.119930073A>T , CM000685.2:g.119930073A>T | GRCh38 |
NC_000023.10:g.119064036A>T , CM000685.1:g.119064036A>T | GRCh37 |
NC_000023.9:g.118948064A>T | NCBI36 |
NG_021260.1:g.18700T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371410.5:c.1016T>A MANE Select | ENSP00000360464.3:p.Leu339Ter | |
ENST00000652253.1:c.1012T>A | ||
ENST00000371410.4:c.1016T>A | ENSP00000360464.3:p.Leu339Ter | |
ENST00000477789.5:n.1944T>A | ||
NM_024528.3:c.1016T>A | NP_078804.2:p.Leu339Ter | |
XM_017029842.1:c.719T>A | XP_016885331.1:p.Leu240Ter | |
NM_024528.4:c.1016T>A MANE Select | NP_078804.2:p.Leu339Ter |