HGVS | Genome Assembly |
---|---|
NC_000011.10:g.46725806G>A , CM000673.2:g.46725806G>A | GRCh38 |
NC_000011.9:g.46747356G>A , CM000673.1:g.46747356G>A | GRCh37 |
NC_000011.8:g.46703932G>A | NCBI36 |
NG_008953.1:g.11614G>A , LRG_551:g.11614G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000311907.10:c.560-53G>A MANE Select | ENSP00000308541.5:n.560-53G>A | |
ENST00000311907.9:c.560-53G>A | ENSP00000308541.5:n.560-53G>A | |
ENST00000442468.1:c.530-53G>A | ENSP00000387413.1:n.530-53G>A | |
ENST00000490274.1:n.340-53G>A | ||
ENST00000530231.5:c.560-53G>A | ENSP00000433907.1:n.560-53G>A | |
NM_000506.3:c.560-53G>A | NP_000497.1:n.560-53G>A | |
NM_000506.4:c.560-53G>A , LRG_551t1:c.560-53G>A | NP_000497.1:n.560-53G>A | |
NM_001311257.1:c.512-53G>A | NP_001298186.1:n.512-53G>A | |
XR_428840.2:n.604-53G>A | ||
XR_428840.4:n.595-53G>A | ||
NM_000506.5:c.560-53G>A MANE Select | NP_000497.1:n.560-53G>A | |
NM_001311257.2:c.512-53G>A | NP_001298186.1:n.512-53G>A |