HGVS | Genome Assembly |
---|---|
NC_000003.12:g.129528893A>C , CM000665.2:g.129528893A>C | GRCh38 |
NC_000003.11:g.129247736A>C , CM000665.1:g.129247736A>C | GRCh37 |
NC_000003.10:g.130730426A>C | NCBI36 |
NG_009115.1:g.5255A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000296271.4:c.160A>C MANE Select | ENSP00000296271.3:p.Ile54Leu | |
ENST00000296271.3:c.160A>C | ENSP00000296271.3:p.Ile54Leu | |
NM_000539.3:c.160A>C MANE Select | NP_000530.1:p.Ile54Leu |