HGVS | Genome Assembly |
---|---|
NC_000011.10:g.116833002C= , CM000673.2:g.116833002C= | GRCh38 |
NC_000011.9:g.116703718C= , CM000673.1:g.116703718C= | GRCh37 |
NC_000011.8:g.116208928C= | NCBI36 |
NG_008949.1:g.8095C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000227667.8:c.*118C= MANE Select | ENSP00000227667.2:n.*118C= | |
ENST00000227667.7:c.*118C= | ENSP00000227667.2:n.*118C= | |
ENST00000375345.3:c.*118C= | ENSP00000364494.1:n.*118C= | |
ENST00000630701.1:c.472C= | ENSP00000486182.1:n.472C= | |
NM_000040.1:c.*118C= | NP_000031.1:n.*118C= | |
NM_000040.2:c.*118C= | NP_000031.1:n.*118C= | |
NM_000040.3:c.*118C= MANE Select | NP_000031.1:n.*118C= |