HGVS | Genome Assembly |
---|---|
NC_000008.11:g.86576213A= , CM000670.2:g.86576213A= | GRCh38 |
NC_000008.10:g.87588441A= , CM000670.1:g.87588441A= | GRCh37 |
NC_000008.9:g.87657557A= | NCBI36 |
NG_016980.1:g.172463T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000320005.6:c.2104-83T= MANE Select | ENSP00000316605.5:n.2104-83T= | |
ENST00000681546.1:n.1924-83T= | ||
ENST00000681746.1:c.*515-83T= | ENSP00000505959.1:n.*515-83T= | |
ENST00000320005.5:c.2104-83T= | ENSP00000316605.5:n.2104-83T= | |
ENST00000517327.5:c.276+2476T= | ENSP00000428329.1:n.276+2476T= | |
NM_019098.4:c.2104-83T= | NP_061971.3:n.2104-83T= | |
XM_011517138.1:c.1690-83T= | XP_011515440.1:n.1690-83T= | |
XM_011517138.2:c.1690-83T= | XP_011515440.1:n.1690-83T= | |
NM_019098.5:c.2104-83T= MANE Select | NP_061971.3:n.2104-83T= |