HGVS | Genome Assembly |
---|---|
NC_000005.10:g.140114774dup , CM000667.2:g.140114774dup | GRCh38 |
NC_000005.9:g.139494359dup , CM000667.1:g.139494359dup | GRCh37 |
NC_000005.8:g.139474543dup | NCBI36 |
NG_041813.1:g.5652dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000331327.5:c.593dup MANE Select | ENSP00000332706.3:p.Arg199ProfsTer2 | |
ENST00000651386.1:c.593dup | ENSP00000499133.1:p.Arg199ProfsTer2 | |
ENST00000331327.4:c.593dup | ENSP00000332706.3:p.Arg199ProfsTer2 | |
NM_005859.4:c.593dup | NP_005850.1:p.Arg199ProfsTer2 | |
NM_005859.5:c.593dup MANE Select | NP_005850.1:p.Arg199ProfsTer2 |