HGVS | Genome Assembly |
---|---|
NC_000015.10:g.74754834dup , CM000677.2:g.74754834dup | GRCh38 |
NC_000015.9:g.75047175dup , CM000677.1:g.75047175dup | GRCh37 |
NC_000015.8:g.72834228dup | NCBI36 |
NG_008431.1:g.37293dup | |
NG_008431.2:g.37293dup | |
NG_061543.1:g.10990dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000343932.5:c.1297dup MANE Select | ENSP00000342007.4:p.Leu433ProfsTer9 | |
ENST00000343932.4:c.1297dup | ENSP00000342007.4:p.Leu433ProfsTer9 | |
NM_000761.4:c.1297dup | NP_000752.2:p.Leu433ProfsTer9 | |
NM_000761.5:c.1297dup MANE Select | NP_000752.2:p.Leu433ProfsTer9 |