HGVS | Genome Assembly |
---|---|
NC_000002.12:g.43887309G= , CM000664.2:g.43887309G= | GRCh38 |
NC_000002.11:g.44114448G= , CM000664.1:g.44114448G= | GRCh37 |
NC_000002.10:g.43967952G= | NCBI36 |
NG_008247.1:g.113697C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000682612.1:c.2243C= | ||
ENST00000684454.1:n.9340C= | ||
ENST00000260665.12:c.*1291C= MANE Select | ENSP00000260665.7:n.*1291C= | |
ENST00000260665.11:c.*1291C= | ENSP00000260665.7:n.*1291C= | |
NM_133259.3:c.*1291C= | NP_573566.2:n.*1291C= | |
XR_002958896.1:n.5658C= | ||
NM_133259.4:c.*1291C= MANE Select | NP_573566.2:n.*1291C= |