HGVS | Genome Assembly |
---|---|
NC_000012.12:g.65949618A= , CM000674.2:g.65949618A= | GRCh38 |
NC_000012.11:g.66343398A= , CM000674.1:g.66343398A= | GRCh37 |
NC_000012.10:g.64629665A= | NCBI36 |
NG_016296.1:g.130159A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000403681.7:c.250-1765A= MANE Select | ENSP00000384026.2:n.250-1765A= | |
ENST00000393577.7:c.250-1765A= | ENSP00000377205.3:n.250-1765A= | |
ENST00000403681.6:c.250-1765A= | ENSP00000384026.2:n.250-1765A= | |
ENST00000539662.1:c.287-1765A= | ENSP00000440919.1:n.287-1765A= | |
ENST00000541363.5:c.250-1765A= | ENSP00000439317.1:n.250-1765A= | |
NM_001300918.1:c.250-1765A= | NP_001287847.1:n.250-1765A= | |
NM_003483.4:c.250-1765A= | NP_003474.1:n.250-1765A= | |
NM_003483.6:c.250-1765A= MANE Select | NP_003474.1:n.250-1765A= |