HGVS | Genome Assembly |
---|---|
NC_000002.12:g.184913780_184913784dup , CM000664.2:g.184913780_184913784dup | GRCh38 |
NC_000002.11:g.185778507_185778511dup , CM000664.1:g.185778507_185778511dup | GRCh37 |
NC_000002.10:g.185486752_185486756dup | NCBI36 |
NG_046950.1:g.320415_320419dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000302277.7:c.256-19823_256-19819dup MANE Select | ENSP00000303252.6:n.256-19823_256-19819du... | |
ENST00000302277.6:c.256-19823_256-19819dup | ENSP00000303252.6:n.256-19823_256-19819du... | |
ENST00000613975.1:c.1-19823_1-19819dup | ENSP00000483032.1:n.1-19823_1-19819dup | |
NM_194250.1:c.256-19823_256-19819dup | NP_919226.1:n.256-19823_256-19819dup | |
NM_194250.2:c.256-19823_256-19819dup MANE Select | NP_919226.1:n.256-19823_256-19819dup |