HGVS | Genome Assembly |
---|---|
NC_000004.12:g.186194359C>A , CM000666.2:g.186194359C>A | GRCh38 |
NC_000004.11:g.187115513C>A , CM000666.1:g.187115513C>A | GRCh37 |
NC_000004.10:g.187352507C>A | NCBI36 |
NG_007965.1:g.7840C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378802.5:c.215-141C>A MANE Select | ENSP00000368079.4:n.215-141C>A | |
ENST00000378802.4:c.215-141C>A | ENSP00000368079.4:n.215-141C>A | |
NM_207352.3:c.215-141C>A | NP_997235.3:n.215-141C>A | |
XM_005262935.2:c.215-141C>A | XP_005262992.1:n.215-141C>A | |
XM_005262935.4:c.215-141C>A | XP_005262992.1:n.215-141C>A | |
XM_017008037.1:c.-96-141C>A | XP_016863526.1:n.-96-141C>A | |
NM_207352.4:c.215-141C>A MANE Select | NP_997235.3:n.215-141C>A |