HGVS | Genome Assembly |
---|---|
NC_000004.12:g.186534156A>G , CM000666.2:g.186534156A>G | GRCh38 |
NC_000004.11:g.187455310A>G , CM000666.1:g.187455310A>G | GRCh37 |
NC_000004.10:g.187692304A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000703170.1:c.586T>C | ENSP00000515216.1:p.Phe196Leu | |
ENST00000307161.5:c.586T>C MANE Select | ENSP00000302811.5:p.Phe196Leu | |
ENST00000509111.2:c.147+21026T>C | ||
NM_005958.3:c.586T>C | NP_005949.1:p.Phe196Leu | |
XM_011532002.1:c.331T>C | XP_011530304.1:p.Phe111Leu | |
XR_939589.1:n.1982-11488A>G | ||
XR_939590.1:n.162-11488A>G | ||
NM_005958.4:c.586T>C MANE Select | NP_005949.1:p.Phe196Leu | |
XM_011532002.3:c.331T>C | XP_011530304.1:p.Phe111Leu | |
XR_939589.2:n.1982-11488A>G | ||
XR_939590.2:n.162-11488A>G |