HGVS | Genome Assembly |
---|---|
NC_000012.12:g.65950011A= , CM000674.2:g.65950011A= | GRCh38 |
NC_000012.11:g.66343791A= , CM000674.1:g.66343791A= | GRCh37 |
NC_000012.10:g.64630058A= | NCBI36 |
NG_016296.1:g.130552A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000403681.7:c.250-1372A= MANE Select | ENSP00000384026.2:n.250-1372A= | |
ENST00000393577.7:c.250-1372A= | ENSP00000377205.3:n.250-1372A= | |
ENST00000403681.6:c.250-1372A= | ENSP00000384026.2:n.250-1372A= | |
ENST00000539662.1:c.287-1372A= | ENSP00000440919.1:n.287-1372A= | |
ENST00000541363.5:c.250-1372A= | ENSP00000439317.1:n.250-1372A= | |
NM_001300918.1:c.250-1372A= | NP_001287847.1:n.250-1372A= | |
NM_003483.4:c.250-1372A= | NP_003474.1:n.250-1372A= | |
NM_003483.6:c.250-1372A= MANE Select | NP_003474.1:n.250-1372A= |