HGVS | Genome Assembly |
---|---|
NC_000001.11:g.196995849A= , CM000663.2:g.196995849A= | GRCh38 |
NC_000001.10:g.196964979A= , CM000663.1:g.196964979A= | GRCh37 |
NC_000001.9:g.195231602A= | NCBI36 |
NG_016365.1:g.23313A= , LRG_227:g.23313A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000699466.1:c.485A= | ENSP00000514393.1:p.Lys162= | |
ENST00000699467.1:n.809A= | ||
ENST00000699468.1:c.-24-265A= | ENSP00000514394.1:n.-24-265A= | |
ENST00000256785.5:c.740A= MANE Select | ENSP00000256785.4:p.Lys247= | |
ENST00000256785.4:c.740A= | ENSP00000256785.4:p.Lys247= | |
NM_030787.3:c.740A= , LRG_227t1:c.740A= | NP_110414.1:p.Lys247= | |
XM_011510020.1:c.749A= | XP_011508322.1:p.Lys250= | |
XM_011510020.2:c.749A= | XP_011508322.1:p.Lys250= | |
NM_030787.4:c.740A= MANE Select | NP_110414.1:p.Lys247= |