HGVS | Genome Assembly |
---|---|
NC_000002.12:g.31348846G= , CM000664.2:g.31348846G= | GRCh38 |
NC_000002.11:g.31571712G= , CM000664.1:g.31571712G= | GRCh37 |
NC_000002.10:g.31425216G= | NCBI36 |
NG_008871.1:g.70900C= | |
NG_008871.2:g.70900C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000379416.4:c.3051+53C= MANE Select | ENSP00000368727.3:n.3051+53C= | |
ENST00000379416.3:c.3051+53C= | ENSP00000368727.3:n.3051+53C= | |
NM_000379.3:c.3051+53C= | NP_000370.2:n.3051+53C= | |
XM_011533095.1:c.3048+53C= | XP_011531397.1:n.3048+53C= | |
XM_011533096.1:c.3051+53C= | XP_011531398.1:n.3051+53C= | |
XM_011533095.2:c.3048+53C= | XP_011531397.1:n.3048+53C= | |
XM_011533096.2:c.3051+53C= | XP_011531398.1:n.3051+53C= | |
NM_000379.4:c.3051+53C= MANE Select | NP_000370.2:n.3051+53C= |