HGVS | Genome Assembly |
---|---|
NC_000003.12:g.190404719C= , CM000665.2:g.190404719C= | GRCh38 |
NC_000003.11:g.190122508C= , CM000665.1:g.190122508C= | GRCh37 |
NC_000003.10:g.191605202C= | NCBI36 |
NG_008149.1:g.21668C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264734.3:c.218-43C= MANE Select | ENSP00000264734.3:n.218-43C= | |
ENST00000456423.2:c.115-5184C= | ENSP00000414136.2:n.115-5184C= | |
ENST00000264734.2:c.428-43C= | ENSP00000264734.2:n.428-43C= | |
ENST00000456423.1:c.325-5184C= | ENSP00000414136.1:n.325-5184C= | |
ENST00000468220.1:n.410-43C= | ||
NM_006580.3:c.428-43C= | NP_006571.1:n.428-43C= | |
NM_001378492.1:c.218-43C= | NP_001365421.1:n.218-43C= | |
NM_001378493.1:c.218-43C= | NP_001365422.1:n.218-43C= | |
NM_006580.4:c.218-43C= MANE Select | NP_006571.2:n.218-43C= |