HGVS | Genome Assembly |
---|---|
NC_000012.12:g.114670387_114670388dup , CM000674.2:g.114670387_114670388dup | GRCh38 |
NC_000012.11:g.115108192_115108193dup , CM000674.1:g.115108192_115108193dup | GRCh37 |
NC_000012.10:g.113592575_113592576dup | NCBI36 |
NG_008315.1:g.18781_18782dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000349155.7:c.*1457_*1458dup MANE Select | ENSP00000257567.2:n.*1457_*1458dup | |
ENST00000257566.7:c.*1457_*1458dup | ENSP00000257566.3:n.*1457_*1458dup | |
ENST00000349155.6:c.*1457_*1458dup | ENSP00000257567.2:n.*1457_*1458dup | |
NM_005996.3:c.*1457_*1458dup | NP_005987.3:n.*1457_*1458dup | |
NM_016569.3:c.*1457_*1458dup | NP_057653.3:n.*1457_*1458dup | |
NM_005996.4:c.*1457_*1458dup MANE Select | NP_005987.3:n.*1457_*1458dup | |
NM_016569.4:c.*1457_*1458dup | NP_057653.3:n.*1457_*1458dup |