HGVS | Genome Assembly |
---|---|
NC_000004.12:g.186199048A>G , CM000666.2:g.186199048A>G | GRCh38 |
NC_000004.11:g.187120202A>G , CM000666.1:g.187120202A>G | GRCh37 |
NC_000004.10:g.187357196A>G | NCBI36 |
NG_007965.1:g.12529A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000378802.5:c.766A>G MANE Select | ENSP00000368079.4:p.Lys256Glu | |
ENST00000378802.4:c.766A>G | ENSP00000368079.4:p.Lys256Glu | |
ENST00000507209.5:n.1607A>G | ||
NM_207352.3:c.766A>G | NP_997235.3:p.Lys256Glu | |
XM_005262935.2:c.766A>G | XP_005262992.1:p.Lys256Glu | |
XM_006714184.2:c.370A>G | XP_006714247.1:p.Lys124Glu | |
XM_005262935.4:c.766A>G | XP_005262992.1:p.Lys256Glu | |
XM_017008037.1:c.370A>G | XP_016863526.1:p.Lys124Glu | |
NM_207352.4:c.766A>G MANE Select | NP_997235.3:p.Lys256Glu |