HGVS | Genome Assembly |
---|---|
NC_000011.10:g.113985959G>T , CM000673.2:g.113985959G>T | GRCh38 |
NC_000011.9:g.113856681G>T , CM000673.1:g.113856681G>T | GRCh37 |
NC_000011.8:g.113361891G>T | NCBI36 |
NG_013058.1:g.15885G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000504030.7:c.545-56G>T MANE Select | ENSP00000424189.2:n.545-56G>T | |
ENST00000299961.5:c.500-56G>T | ENSP00000299961.4:n.500-56G>T | |
ENST00000355556.6:c.563-56G>T | ENSP00000347754.2:n.563-56G>T | |
ENST00000375498.6:c.563-56G>T | ENSP00000364648.2:n.563-56G>T | |
ENST00000502622.1:n.448-56G>T | ||
ENST00000504030.6:c.545-56G>T | ENSP00000424189.2:n.545-56G>T | |
ENST00000506841.6:c.545-56G>T | ENSP00000424776.2:n.545-56G>T | |
ENST00000510849.5:c.545-559G>T | ENSP00000423653.1:n.545-559G>T | |
NM_000869.5:c.563-56G>T | NP_000860.2:n.563-56G>T | |
NM_001161772.2:c.500-56G>T | NP_001155244.1:n.500-56G>T | |
NM_213621.3:c.563-56G>T | NP_998786.2:n.563-56G>T | |
NR_046363.1:n.796-559G>T | ||
NM_000869.6:c.545-56G>T MANE Select | NP_000860.3:n.545-56G>T | |
NM_213621.4:c.545-56G>T | NP_998786.3:n.545-56G>T | |
NM_001161772.3:c.500-56G>T | NP_001155244.1:n.500-56G>T | |
NR_046363.2:n.763-559G>T |