HGVS | Genome Assembly |
---|---|
NC_000004.12:g.67753704C>A , CM000666.2:g.67753704C>A | GRCh38 |
NC_000004.11:g.68619422C>A , CM000666.1:g.68619422C>A | GRCh37 |
NC_000004.10:g.68302017C>A | NCBI36 |
NG_009293.1:g.7383G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000226413.5:c.522+110G>T MANE Select | ENSP00000226413.5:n.522+110G>T | |
ENST00000226413.4:c.522+110G>T | ENSP00000226413.4:n.522+110G>T | |
ENST00000420975.2:c.522+110G>T | ENSP00000397561.2:n.522+110G>T | |
NM_000406.2:c.522+110G>T | NP_000397.1:n.522+110G>T | |
NM_001012763.1:c.522+110G>T | NP_001012781.1:n.522+110G>T | |
XR_938850.1:n.128C>A | ||
NM_000406.3:c.522+110G>T MANE Select | NP_000397.1:n.522+110G>T | |
NM_001012763.2:c.522+110G>T | NP_001012781.1:n.522+110G>T |