HGVS | Genome Assembly |
---|---|
NC_000017.11:g.72123601C= , CM000679.2:g.72123601C= | GRCh38 |
NC_000017.10:g.70119742C= , CM000679.1:g.70119742C= | GRCh37 |
NC_000017.9:g.67631337C= | NCBI36 |
NG_012490.1:g.7582C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000245479.3:c.744C= MANE Select | ENSP00000245479.2:p.Gly248= | |
ENST00000245479.2:c.744C= | ENSP00000245479.2:p.Gly248= | |
NM_000346.3:c.744C= | NP_000337.1:p.Gly248= | |
NM_000346.4:c.744C= MANE Select | NP_000337.1:p.Gly248= |