HGVS | Genome Assembly |
---|---|
NC_000003.12:g.129532611A>C , CM000665.2:g.129532611A>C | GRCh38 |
NC_000003.11:g.129251454A>C , CM000665.1:g.129251454A>C | GRCh37 |
NC_000003.10:g.130734144A>C | NCBI36 |
NG_009115.1:g.8973A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000296271.4:c.775A>C MANE Select | ENSP00000296271.3:p.Ile259Leu | |
ENST00000296271.3:c.775A>C | ENSP00000296271.3:p.Ile259Leu | |
NM_000539.3:c.775A>C MANE Select | NP_000530.1:p.Ile259Leu |