HGVS | Genome Assembly |
---|---|
NC_000004.12:g.186194113T>G , CM000666.2:g.186194113T>G | GRCh38 |
NC_000004.11:g.187115267T>G , CM000666.1:g.187115267T>G | GRCh37 |
NC_000004.10:g.187352261T>G | NCBI36 |
NG_007965.1:g.7594T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378802.5:c.215-387T>G MANE Select | ENSP00000368079.4:n.215-387T>G | |
ENST00000378802.4:c.215-387T>G | ENSP00000368079.4:n.215-387T>G | |
NM_207352.3:c.215-387T>G | NP_997235.3:n.215-387T>G | |
XM_005262935.2:c.215-387T>G | XP_005262992.1:n.215-387T>G | |
XM_005262935.4:c.215-387T>G | XP_005262992.1:n.215-387T>G | |
XM_017008037.1:c.-96-387T>G | XP_016863526.1:n.-96-387T>G | |
NM_207352.4:c.215-387T>G MANE Select | NP_997235.3:n.215-387T>G |