HGVS | Genome Assembly |
---|---|
NC_000023.11:g.29917598T>A , CM000685.2:g.29917598T>A | GRCh38 |
NC_000023.10:g.29935715T>A , CM000685.1:g.29935715T>A | GRCh37 |
NC_000023.9:g.29845636T>A | NCBI36 |
NG_008292.1:g.1335035T>A | |
NG_008292.2:g.1335035T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378993.6:c.911+2T>A MANE Select | ENSP00000368278.1:n.911+2T>A | |
ENST00000302196.5:c.134+2T>A | ENSP00000305200.5:n.134+2T>A | |
ENST00000378993.5:c.911+2T>A | ENSP00000368278.1:n.911+2T>A | |
NM_014271.3:c.911+2T>A | NP_055086.1:n.911+2T>A | |
XM_005274441.1:c.911+2T>A | XP_005274498.1:n.911+2T>A | |
XM_011545445.1:c.911+2T>A | XP_011543747.1:n.911+2T>A | |
XM_017029240.1:c.911+2T>A | XP_016884729.1:n.911+2T>A | |
XM_017029241.1:c.533+2T>A | XP_016884730.1:n.533+2T>A | |
NM_014271.4:c.911+2T>A MANE Select | NP_055086.1:n.911+2T>A |