HGVS | Genome Assembly |
---|---|
NC_000002.12:g.68371805_68371806dup , CM000664.2:g.68371805_68371806dup | GRCh38 |
NC_000002.11:g.68598937_68598938dup , CM000664.1:g.68598937_68598938dup | GRCh37 |
NC_000002.10:g.68452441_68452442dup | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000234313.8:c.42+6412_42+6413dup MANE Select | ENSP00000234313.7:n.42+6412_42+6413dup | |
ENST00000234313.7:c.42+6412_42+6413dup | ENSP00000234313.7:n.42+6412_42+6413dup | |
NM_002664.2:c.42+6412_42+6413dup | NP_002655.2:n.42+6412_42+6413dup | |
XM_011532916.1:c.42+6412_42+6413dup | XP_011531218.1:n.42+6412_42+6413dup | |
NM_002664.3:c.42+6412_42+6413dup MANE Select | NP_002655.2:n.42+6412_42+6413dup |