HGVS | Genome Assembly |
---|---|
NC_000023.11:g.29917678T= , CM000685.2:g.29917678T= | GRCh38 |
NC_000023.10:g.29935795T= , CM000685.1:g.29935795T= | GRCh37 |
NC_000023.9:g.29845716T= | NCBI36 |
NG_008292.1:g.1335115T= | |
NG_008292.2:g.1335115T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378993.6:c.911+82T= MANE Select | ENSP00000368278.1:n.911+82T= | |
ENST00000302196.5:c.134+82T= | ENSP00000305200.5:n.134+82T= | |
ENST00000378993.5:c.911+82T= | ENSP00000368278.1:n.911+82T= | |
NM_014271.3:c.911+82T= | NP_055086.1:n.911+82T= | |
XM_005274441.1:c.911+82T= | XP_005274498.1:n.911+82T= | |
XM_011545445.1:c.911+82T= | XP_011543747.1:n.911+82T= | |
XM_017029240.1:c.911+82T= | XP_016884729.1:n.911+82T= | |
XM_017029241.1:c.533+82T= | XP_016884730.1:n.533+82T= | |
NM_014271.4:c.911+82T= MANE Select | NP_055086.1:n.911+82T= |