HGVS | Genome Assembly |
---|---|
NC_000003.12:g.13854759C>G , CM000665.2:g.13854759C>G | GRCh38 |
NC_000003.11:g.13896256C>G , CM000665.1:g.13896256C>G | GRCh37 |
NC_000003.10:g.13871257C>G | NCBI36 |
NG_008088.1:g.30363G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000285018.5:c.343G>C MANE Select | ENSP00000285018.4:p.Val115Leu | |
ENST00000285018.4:c.343G>C | ENSP00000285018.4:p.Val115Leu | |
NM_004625.3:c.343G>C | NP_004616.2:p.Val115Leu | |
XM_011534090.1:c.142G>C | XP_011532392.1:p.Val48Leu | |
XM_011534091.1:c.142G>C | XP_011532393.1:p.Val48Leu | |
XM_011534091.2:c.142G>C | XP_011532393.1:p.Val48Leu | |
NM_004625.4:c.343G>C MANE Select | NP_004616.2:p.Val115Leu |