HGVS | Genome Assembly |
---|---|
NC_000001.11:g.165420014G= , CM000663.2:g.165420014G= | GRCh38 |
NC_000001.10:g.165389251G= , CM000663.1:g.165389251G= | GRCh37 |
NC_000001.9:g.163655875G= | NCBI36 |
NG_029517.1:g.30342C= | |
NG_029517.2:g.30342C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000359842.10:c.298C= MANE Select | ENSP00000352900.5:p.Leu100= | |
ENST00000359842.9:c.298C= | ENSP00000352900.5:p.Leu100= | |
ENST00000470566.1:n.223C= | ||
ENST00000619224.1:c.-72C= | ENSP00000482458.1:n.-72C= | |
NM_001256570.1:c.-72C= | NP_001243499.1:n.-72C= | |
NM_001256571.1:c.-72C= | NP_001243500.1:n.-72C= | |
NM_006917.4:c.298C= | NP_008848.1:p.Leu100= | |
NM_006917.5:c.298C= MANE Select | NP_008848.1:p.Leu100= | |
NM_001256571.2:c.-72C= | NP_001243500.1:n.-72C= | |
NM_001256570.2:c.-72C= | NP_001243499.1:n.-72C= |