HGVS | Genome Assembly |
---|---|
NC_000003.12:g.129528878G>C , CM000665.2:g.129528878G>C | GRCh38 |
NC_000003.11:g.129247721G>C , CM000665.1:g.129247721G>C | GRCh37 |
NC_000003.10:g.130730411G>C | NCBI36 |
NG_009115.1:g.5240G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000296271.4:c.145G>C MANE Select | ENSP00000296271.3:p.Val49Leu | |
ENST00000296271.3:c.145G>C | ENSP00000296271.3:p.Val49Leu | |
NM_000539.3:c.145G>C MANE Select | NP_000530.1:p.Val49Leu |