HGVS | Genome Assembly |
---|---|
NC_000004.12:g.73998280T>C , CM000666.2:g.73998280T>C | GRCh38 |
NC_000004.11:g.74863997T>C , CM000666.1:g.74863997T>C | GRCh37 |
NC_000004.10:g.75082861T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000296027.5:c.168A>G MANE Select | ENSP00000296027.4:p.Gln56= | |
ENST00000296027.4:c.168A>G | ENSP00000296027.4:p.Gln56= | |
NM_002994.4:c.168A>G | NP_002985.1:p.Gln56= | |
NM_002994.5:c.168A>G MANE Select | NP_002985.1:p.Gln56= |