HGVS | Genome Assembly |
---|---|
NC_000001.11:g.209786022G= , CM000663.2:g.209786022G= | GRCh38 |
NC_000001.10:g.209959367G= , CM000663.1:g.209959367G= | GRCh37 |
NC_000001.9:g.208025990G= | NCBI36 |
NG_007081.2:g.25113C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696133.1:c.1401-2313C= | ENSP00000512426.1:n.1401-2313C= | |
ENST00000696134.1:c.*3229C= | ENSP00000512427.1:n.*3229C= | |
ENST00000367021.8:c.*2398C= MANE Select | ENSP00000355988.3:n.*2398C= | |
ENST00000367021.7:c.*2398C= | ENSP00000355988.3:n.*2398C= | |
ENST00000542854.5:c.*2398C= | ENSP00000440532.1:n.*2398C= | |
NM_001206696.1:c.*2398C= | NP_001193625.1:n.*2398C= | |
NM_006147.3:c.*2398C= | NP_006138.1:n.*2398C= | |
NM_006147.4:c.*2398C= MANE Select | NP_006138.1:n.*2398C= | |
NM_001206696.2:c.*2398C= | NP_001193625.1:n.*2398C= |