HGVS | Genome Assembly |
---|---|
NC_000015.10:g.74754442_74754448dup , CM000677.2:g.74754442_74754448dup | GRCh38 |
NC_000015.9:g.75046783_75046789dup , CM000677.1:g.75046783_75046789dup | GRCh37 |
NC_000015.8:g.72833836_72833842dup | NCBI36 |
NG_008431.1:g.36901_36907dup | |
NG_008431.2:g.36901_36907dup | |
NG_061543.1:g.10598_10604dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000343932.5:c.1254-349_1254-343dup MANE Select | ENSP00000342007.4:n.1254-349_1254-343dup | |
ENST00000343932.4:c.1254-349_1254-343dup | ENSP00000342007.4:n.1254-349_1254-343dup | |
NM_000761.4:c.1254-349_1254-343dup | NP_000752.2:n.1254-349_1254-343dup | |
NM_000761.5:c.1254-349_1254-343dup MANE Select | NP_000752.2:n.1254-349_1254-343dup |