HGVS | Genome Assembly |
---|---|
NC_000001.11:g.119759898C= , CM000663.2:g.119759898C= | GRCh38 |
NC_000001.10:g.120302521C= , CM000663.1:g.120302521C= | GRCh37 |
NC_000001.9:g.120104044C= | NCBI36 |
NG_013348.1:g.14035G= , LRG_447:g.14035G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369406.8:c.651G= MANE Select | ENSP00000358414.3:p.Leu217= | |
ENST00000369406.7:c.651G= | ENSP00000358414.3:p.Leu217= | |
ENST00000476640.1:n.547G= | ||
ENST00000544913.2:c.560-616G= | ENSP00000439495.2:n.560-616G= | |
NM_001166107.1:c.560-616G= , LRG_447t2:c.560-616G= | NP_001159579.1:n.560-616G= | |
NM_005518.3:c.651G= , LRG_447t1:c.651G= | NP_005509.1:p.Leu217= | |
XM_011541313.1:c.651G= | XP_011539615.1:p.Leu217= | |
XM_011541313.2:c.651G= | XP_011539615.1:p.Leu217= | |
NM_005518.4:c.651G= MANE Select | NP_005509.1:p.Leu217= |