HGVS | Genome Assembly |
---|---|
NC_000023.11:g.50192535T= , CM000685.2:g.50192535T= | GRCh38 |
NC_000023.10:g.49957186T= , CM000685.1:g.49957186T= | GRCh37 |
NC_000023.9:g.49843926T= | NCBI36 |
NG_012552.1:g.13479A= | |
NG_012552.2:g.13479A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000358526.7:c.2178A= MANE Select | ENSP00000351327.2:p.Glu726= | |
ENST00000358526.6:c.2178A= | ENSP00000351327.2:p.Glu726= | |
ENST00000376064.7:c.2151A= | ENSP00000365232.3:p.Glu717= | |
ENST00000481402.5:n.2290A= | ||
NM_003886.2:c.2178A= | NP_003877.2:p.Glu726= | |
NM_139289.1:c.2151A= | NP_647450.1:p.Glu717= | |
NM_003886.3:c.2178A= MANE Select | NP_003877.2:p.Glu726= | |
NM_139289.2:c.2151A= | NP_647450.1:p.Glu717= |