HGVS | Genome Assembly |
---|---|
NC_000004.12:g.186199066C>A , CM000666.2:g.186199066C>A | GRCh38 |
NC_000004.11:g.187120220C>A , CM000666.1:g.187120220C>A | GRCh37 |
NC_000004.10:g.187357214C>A | NCBI36 |
NG_007965.1:g.12547C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000378802.5:c.784C>A MANE Select | ENSP00000368079.4:p.His262Asn | |
ENST00000378802.4:c.784C>A | ENSP00000368079.4:p.His262Asn | |
ENST00000507209.5:n.1625C>A | ||
NM_207352.3:c.784C>A | NP_997235.3:p.His262Asn | |
XM_005262935.2:c.784C>A | XP_005262992.1:p.His262Asn | |
XM_006714184.2:c.388C>A | XP_006714247.1:p.His130Asn | |
XM_005262935.4:c.784C>A | XP_005262992.1:p.His262Asn | |
XM_017008037.1:c.388C>A | XP_016863526.1:p.His130Asn | |
NM_207352.4:c.784C>A MANE Select | NP_997235.3:p.His262Asn |