HGVS | Genome Assembly |
---|---|
NC_000019.10:g.35284946C>G , CM000681.2:g.35284946C>G | GRCh38 |
NC_000019.9:g.35775849C>G , CM000681.1:g.35775849C>G | GRCh37 |
NC_000019.8:g.40467689C>G | NCBI36 |
NG_011563.1:g.7440C>G | |
NG_011563.2:g.7440C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000222304.5:c.159C>G MANE Select | ENSP00000222304.2:p.Phe53Leu | |
ENST00000222304.3:c.159C>G | ENSP00000222304.2:p.Phe53Leu | |
ENST00000593580.1:n.2430C>G | ||
ENST00000598398.5:c.159C>G | ENSP00000471894.1:p.Phe53Leu | |
NM_021175.2:c.159C>G | NP_066998.1:p.Phe53Leu | |
NM_021175.3:c.159C>G | NP_066998.1:p.Phe53Leu | |
NM_021175.4:c.159C>G MANE Select | NP_066998.1:p.Phe53Leu |