HGVS | Genome Assembly |
---|---|
NC_000015.10:g.74755364_74755365dup , CM000677.2:g.74755364_74755365dup | GRCh38 |
NC_000015.9:g.75047705_75047706dup , CM000677.1:g.75047705_75047706dup | GRCh37 |
NC_000015.8:g.72834758_72834759dup | NCBI36 |
NG_008431.1:g.37823_37824dup | |
NG_008431.2:g.37823_37824dup | |
NG_061543.1:g.11520_11521dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000343932.5:c.*276_*277dup MANE Select | ENSP00000342007.4:n.*276_*277dup | |
ENST00000343932.4:c.*276_*277dup | ENSP00000342007.4:n.*276_*277dup | |
NM_000761.4:c.*276_*277dup | NP_000752.2:n.*276_*277dup | |
NM_000761.5:c.*276_*277dup MANE Select | NP_000752.2:n.*276_*277dup |