HGVS | Genome Assembly |
---|---|
NC_000010.11:g.49735202G>A , CM000672.2:g.49735202G>A | GRCh38 |
NC_000010.10:g.50943248G>A , CM000672.1:g.50943248G>A | GRCh37 |
NC_000010.9:g.50613254G>A | NCBI36 |
NG_052636.1:g.32178C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374103.9:c.*26C>T MANE Select | ENSP00000363216.4:n.*26C>T | |
ENST00000374103.8:c.*26C>T | ENSP00000363216.4:n.*26C>T | |
ENST00000419399.4:c.*26C>T | ENSP00000401356.1:n.*26C>T | |
ENST00000432695.2:c.*26C>T | ENSP00000390240.1:n.*26C>T | |
ENST00000490844.1:n.2095C>T | ||
NM_001143996.1:c.*26C>T | NP_001137468.1:n.*26C>T | |
NM_001143997.1:c.*26C>T | NP_001137469.1:n.*26C>T | |
NM_018245.2:c.*26C>T | NP_060715.2:n.*26C>T | |
XM_011539946.1:c.*26C>T | XP_011538248.1:n.*26C>T | |
XM_011539947.1:c.*26C>T | XP_011538249.1:n.*26C>T | |
NM_001347819.1:c.*26C>T | NP_001334748.1:n.*26C>T | |
NM_001347820.1:c.*26C>T | NP_001334749.1:n.*26C>T | |
NM_001347821.1:c.*26C>T | NP_001334750.1:n.*26C>T | |
NM_001347822.1:c.*26C>T | NP_001334751.1:n.*26C>T | |
NM_001347823.1:c.*26C>T | NP_001334752.1:n.*26C>T | |
NM_001347824.1:c.*26C>T | NP_001334753.1:n.*26C>T | |
NM_001347825.1:c.*26C>T | NP_001334754.1:n.*26C>T | |
NM_001347826.1:c.*26C>T | NP_001334755.1:n.*26C>T | |
NR_144682.1:n.2957C>T | ||
NR_144683.1:n.3128C>T | ||
NR_144684.1:n.2866C>T | ||
NR_144685.1:n.2752C>T | ||
NR_144686.1:n.3037C>T | ||
XM_011539946.2:c.*26C>T | XP_011538248.1:n.*26C>T | |
XM_017016402.1:c.*26C>T | XP_016871891.1:n.*26C>T | |
XM_017016403.1:c.*26C>T | XP_016871892.1:n.*26C>T | |
NM_018245.3:c.*26C>T MANE Select | NP_060715.2:n.*26C>T | |
NM_001347821.2:c.*26C>T | NP_001334750.1:n.*26C>T | |
NM_001347824.2:c.*26C>T | NP_001334753.1:n.*26C>T | |
NM_001347825.2:c.*26C>T | NP_001334754.1:n.*26C>T | |
NR_144682.2:n.2901C>T | ||
NR_144683.2:n.3072C>T | ||
NR_144684.2:n.2810C>T | ||
NR_144685.2:n.2696C>T | ||
NR_144686.2:n.2981C>T | ||
NM_001143996.2:c.*26C>T | NP_001137468.1:n.*26C>T | |
NM_001143997.2:c.*26C>T | NP_001137469.1:n.*26C>T |