HGVS | Genome Assembly |
---|---|
NC_000012.12:g.91107041_91107043dup , CM000674.2:g.91107041_91107043dup | GRCh38 |
NC_000012.11:g.91500818_91500820dup , CM000674.1:g.91500818_91500820dup | GRCh37 |
NC_000012.10:g.90024949_90024951dup | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000266718.5:c.862+1087_862+1089dup MANE Select | ENSP00000266718.4:n.862+1087_862+1089dup | |
ENST00000266718.4:c.862+1087_862+1089dup | ENSP00000266718.4:n.862+1087_862+1089dup | |
ENST00000546642.1:n.612+1087_612+1089dup | ||
ENST00000548071.1:n.255+1087_255+1089dup | ||
NM_002345.3:c.862+1087_862+1089dup | NP_002336.1:n.862+1087_862+1089dup | |
NM_002345.4:c.862+1087_862+1089dup MANE Select | NP_002336.1:n.862+1087_862+1089dup |