HGVS | Genome Assembly |
---|---|
NC_000002.12:g.112777857_112777869dup , CM000664.2:g.112777857_112777869dup | GRCh38 |
NC_000002.11:g.113535434_113535446dup , CM000664.1:g.113535434_113535446dup | GRCh37 |
NC_000002.10:g.113251905_113251917dup | NCBI36 |
NG_008850.1:g.12532_12544dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000263339.4:c.615+124_615+136dup MANE Select | ENSP00000263339.3:n.615+124_615+136dup | |
ENST00000263339.3:c.615+124_615+136dup | ENSP00000263339.3:n.615+124_615+136dup | |
NM_000575.3:c.615+124_615+136dup | NP_000566.3:n.615+124_615+136dup | |
NM_000575.4:c.615+124_615+136dup | NP_000566.3:n.615+124_615+136dup | |
NM_000575.5:c.615+124_615+136dup MANE Select | NP_000566.3:n.615+124_615+136dup | |
NM_001371554.1:c.615+124_615+136dup | NP_001358483.1:n.615+124_615+136dup |