HGVS | Genome Assembly |
---|---|
NC_000004.12:g.186199090C>T , CM000666.2:g.186199090C>T | GRCh38 |
NC_000004.11:g.187120244C>T , CM000666.1:g.187120244C>T | GRCh37 |
NC_000004.10:g.187357238C>T | NCBI36 |
NG_007965.1:g.12571C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000378802.5:c.801+7C>T MANE Select | ENSP00000368079.4:n.801+7C>T | |
ENST00000378802.4:c.801+7C>T | ENSP00000368079.4:n.801+7C>T | |
ENST00000507209.5:n.1642+7C>T | ||
NM_207352.3:c.801+7C>T | NP_997235.3:n.801+7C>T | |
XM_005262935.2:c.801+7C>T | XP_005262992.1:n.801+7C>T | |
XM_006714184.2:c.405+7C>T | XP_006714247.1:n.405+7C>T | |
XM_005262935.4:c.801+7C>T | XP_005262992.1:n.801+7C>T | |
XM_017008037.1:c.405+7C>T | XP_016863526.1:n.405+7C>T | |
NM_207352.4:c.801+7C>T MANE Select | NP_997235.3:n.801+7C>T |