HGVS | Genome Assembly |
---|---|
NC_000020.11:g.4884300C>G , CM000682.2:g.4884300C>G | GRCh38 |
NC_000020.10:g.4864946C>G , CM000682.1:g.4864946C>G | GRCh37 |
NC_000020.9:g.4812946C>G | NCBI36 |
NG_029959.1:g.122200G>C | |
NG_029959.2:g.130994G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000338244.6:c.642+453G>C MANE Select | ENSP00000344322.1:n.642+453G>C | |
ENST00000338244.5:c.642+453G>C | ENSP00000344322.1:n.642+453G>C | |
ENST00000379333.5:c.642+453G>C | ENSP00000368637.1:n.642+453G>C | |
ENST00000423430.1:c.94-9604G>C | ||
ENST00000468355.5:n.1008+453G>C | ||
ENST00000496331.1:n.242+453G>C | ||
NM_005116.5:c.642+453G>C | NP_005107.4:n.642+453G>C | |
NM_203327.1:c.642+453G>C | NP_976072.1:n.642+453G>C | |
XM_005260904.2:c.177+453G>C | XP_005260961.1:n.177+453G>C | |
XM_011529414.1:c.642+453G>C | XP_011527716.1:n.642+453G>C | |
XM_011529415.1:c.642+453G>C | XP_011527717.1:n.642+453G>C | |
XM_011529416.1:c.642+453G>C | XP_011527718.1:n.642+453G>C | |
XM_011529417.1:c.642+453G>C | XP_011527719.1:n.642+453G>C | |
NM_005116.6:c.642+453G>C MANE Select | NP_005107.4:n.642+453G>C | |
NM_203327.2:c.642+453G>C | NP_976072.1:n.642+453G>C |