HGVS | Genome Assembly |
---|---|
NC_000023.11:g.29917601T>G , CM000685.2:g.29917601T>G | GRCh38 |
NC_000023.10:g.29935718T>G , CM000685.1:g.29935718T>G | GRCh37 |
NC_000023.9:g.29845639T>G | NCBI36 |
NG_008292.1:g.1335038T>G | |
NG_008292.2:g.1335038T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378993.6:c.911+5T>G MANE Select | ENSP00000368278.1:n.911+5T>G | |
ENST00000302196.5:c.134+5T>G | ENSP00000305200.5:n.134+5T>G | |
ENST00000378993.5:c.911+5T>G | ENSP00000368278.1:n.911+5T>G | |
NM_014271.3:c.911+5T>G | NP_055086.1:n.911+5T>G | |
XM_005274441.1:c.911+5T>G | XP_005274498.1:n.911+5T>G | |
XM_011545445.1:c.911+5T>G | XP_011543747.1:n.911+5T>G | |
XM_017029240.1:c.911+5T>G | XP_016884729.1:n.911+5T>G | |
XM_017029241.1:c.533+5T>G | XP_016884730.1:n.533+5T>G | |
NM_014271.4:c.911+5T>G MANE Select | NP_055086.1:n.911+5T>G |