HGVS | Genome Assembly |
---|---|
NC_000016.10:g.30999828A= , CM000678.2:g.30999828A= | GRCh38 |
NC_000016.9:g.31011149A= , CM000678.1:g.31011149A= | GRCh37 |
NC_000016.8:g.30918650A= | NCBI36 |
NG_041829.1:g.15681T= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000215095.11:c.280+1100T= MANE Select | ENSP00000215095.5:n.280+1100T= | |
ENST00000565419.2:c.280+1100T= | ENSP00000455899.1:n.280+1100T= | |
ENST00000215095.9:c.280+1100T= | ENSP00000215095.5:n.280+1100T= | |
ENST00000565419.1:c.280+1100T= | ENSP00000455899.1:n.280+1100T= | |
ENST00000569638.5:c.28+1100T= | ENSP00000457067.1:n.28+1100T= | |
NM_052874.4:c.280+1100T= | NP_443106.1:n.280+1100T= | |
XM_017022893.1:c.262+1100T= | XP_016878382.1:n.262+1100T= | |
NM_052874.5:c.280+1100T= MANE Select | NP_443106.1:n.280+1100T= |