HGVS | Genome Assembly |
---|---|
NC_000012.12:g.120739658_120739659dup , CM000674.2:g.120739658_120739659dup | GRCh38 |
NC_000012.11:g.121177461_121177462dup , CM000674.1:g.121177461_121177462dup | GRCh37 |
NC_000012.10:g.119661844_119661845dup | NCBI36 |
NG_007991.1:g.18891_18892dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242592.9:c.*210_*211dup MANE Select | ENSP00000242592.4:n.*210_*211dup | |
ENST00000242592.8:c.*210_*211dup | ENSP00000242592.4:n.*210_*211dup | |
NM_000017.3:c.*210_*211dup | NP_000008.1:n.*210_*211dup | |
NM_001302554.1:c.*210_*211dup | NP_001289483.1:n.*210_*211dup | |
NM_000017.4:c.*210_*211dup MANE Select | NP_000008.1:n.*210_*211dup | |
NM_001302554.2:c.*210_*211dup | NP_001289483.1:n.*210_*211dup |