HGVS | Genome Assembly |
---|---|
NC_000005.10:g.159315985_159315986dup , CM000667.2:g.159315985_159315986dup | GRCh38 |
NC_000005.9:g.158742993_158742994dup , CM000667.1:g.158742993_158742994dup | GRCh37 |
NC_000005.8:g.158675571_158675572dup | NCBI36 |
NG_009618.1:g.19493_19494dup , LRG_71:g.19493_19494dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000696750.1:c.*120_*121dup | ENSP00000512849.1:n.*120_*121dup | |
ENST00000696751.1:c.*602_*603dup | ENSP00000512850.1:n.*602_*603dup | |
ENST00000231228.3:c.*120_*121dup MANE Select | ENSP00000231228.2:n.*120_*121dup | |
ENST00000231228.2:c.*120_*121dup | ENSP00000231228.2:n.*120_*121dup | |
NM_002187.2:c.*120_*121dup , LRG_71t1:c.*120_*121dup | NP_002178.2:n.*120_*121dup | |
NM_002187.3:c.*120_*121dup MANE Select | NP_002178.2:n.*120_*121dup |