HGVS | Genome Assembly |
---|---|
NC_000004.12:g.103656171_103656172dup , CM000666.2:g.103656171_103656172dup | GRCh38 |
NC_000004.11:g.104577328_104577329dup , CM000666.1:g.104577328_104577329dup | GRCh37 |
NC_000004.10:g.104796777_104796778dup | NCBI36 |
NG_023344.1:g.68645_68646dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000304883.3:c.888+22_888+23dup MANE Select | ENSP00000303325.2:n.888+22_888+23dup | |
ENST00000304883.2:c.888+22_888+23dup | ENSP00000303325.2:n.888+22_888+23dup | |
NM_001059.2:c.888+22_888+23dup | NP_001050.1:n.888+22_888+23dup | |
NM_001059.3:c.888+22_888+23dup MANE Select | NP_001050.1:n.888+22_888+23dup |