HGVS | Genome Assembly |
---|---|
NC_000001.11:g.1014119G>C , CM000663.2:g.1014119G>C | GRCh38 |
NC_000001.10:g.949499G>C , CM000663.1:g.949499G>C | GRCh37 |
NC_000001.9:g.939362G>C | NCBI36 |
NG_033033.1:g.5653G>C | |
NG_033033.2:g.17982G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000624697.4:c.115G>C | ENSP00000485643.1:p.Val39Leu | |
ENST00000649529.1:c.139G>C MANE Select | ENSP00000496832.1:p.Val47Leu | |
ENST00000379389.4:c.139G>C | ENSP00000368699.4:p.Val47Leu | |
ENST00000624652.1:c.115G>C | ENSP00000485313.1:p.Val39Leu | |
ENST00000624697.3:c.115G>C | ENSP00000485643.1:p.Val39Leu | |
NM_005101.3:c.139G>C | NP_005092.1:p.Val47Leu | |
NM_005101.4:c.139G>C MANE Select | NP_005092.1:p.Val47Leu |