HGVS | Genome Assembly |
---|---|
NC_000001.11:g.196995725C= , CM000663.2:g.196995725C= | GRCh38 |
NC_000001.10:g.196964855C= , CM000663.1:g.196964855C= | GRCh37 |
NC_000001.9:g.195231478C= | NCBI36 |
NG_016365.1:g.23189C= , LRG_227:g.23189C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000699466.1:c.361C= | ENSP00000514393.1:p.Arg121= | |
ENST00000699467.1:n.685C= | ||
ENST00000699468.1:c.-24-389C= | ENSP00000514394.1:n.-24-389C= | |
ENST00000256785.5:c.616C= MANE Select | ENSP00000256785.4:p.Arg206= | |
ENST00000256785.4:c.616C= | ENSP00000256785.4:p.Arg206= | |
NM_030787.3:c.616C= , LRG_227t1:c.616C= | NP_110414.1:p.Arg206= | |
XM_011510020.1:c.625C= | XP_011508322.1:p.Arg209= | |
XM_011510020.2:c.625C= | XP_011508322.1:p.Arg209= | |
NM_030787.4:c.616C= MANE Select | NP_110414.1:p.Arg206= |