HGVS | Genome Assembly |
---|---|
NC_000017.11:g.34320812A>G , CM000679.2:g.34320812A>G | GRCh38 |
NC_000017.10:g.32647831A>G , CM000679.1:g.32647831A>G | GRCh37 |
NC_000017.9:g.29671944A>G | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000394620.2:c.205A>G MANE Select | ENSP00000378118.1:p.Lys69Glu | |
ENST00000394620.1:c.205A>G | ENSP00000378118.1:p.Lys69Glu | |
NM_005623.2:c.205A>G | NP_005614.2:p.Lys69Glu | |
NM_005623.3:c.205A>G MANE Select | NP_005614.2:p.Lys69Glu |