HGVS | Genome Assembly |
---|---|
NC_000004.12:g.186199060A>G , CM000666.2:g.186199060A>G | GRCh38 |
NC_000004.11:g.187120214A>G , CM000666.1:g.187120214A>G | GRCh37 |
NC_000004.10:g.187357208A>G | NCBI36 |
NG_007965.1:g.12541A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000378802.5:c.778A>G MANE Select | ENSP00000368079.4:p.Ile260Val | |
ENST00000378802.4:c.778A>G | ENSP00000368079.4:p.Ile260Val | |
ENST00000507209.5:n.1619A>G | ||
NM_207352.3:c.778A>G | NP_997235.3:p.Ile260Val | |
XM_005262935.2:c.778A>G | XP_005262992.1:p.Ile260Val | |
XM_006714184.2:c.382A>G | XP_006714247.1:p.Ile128Val | |
XM_005262935.4:c.778A>G | XP_005262992.1:p.Ile260Val | |
XM_017008037.1:c.382A>G | XP_016863526.1:p.Ile128Val | |
NM_207352.4:c.778A>G MANE Select | NP_997235.3:p.Ile260Val |