HGVS | Genome Assembly |
---|---|
NC_000004.12:g.186534250A>G , CM000666.2:g.186534250A>G | GRCh38 |
NC_000004.11:g.187455404A>G , CM000666.1:g.187455404A>G | GRCh37 |
NC_000004.10:g.187692398A>G | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000703170.1:c.492T>C | ENSP00000515216.1:p.Arg164= | |
ENST00000307161.5:c.492T>C MANE Select | ENSP00000302811.5:p.Arg164= | |
ENST00000509111.2:c.147+20932T>C | ||
NM_005958.3:c.492T>C | NP_005949.1:p.Arg164= | |
XM_011532002.1:c.237T>C | XP_011530304.1:p.Arg79= | |
XR_939589.1:n.1982-11394A>G | ||
XR_939590.1:n.162-11394A>G | ||
NM_005958.4:c.492T>C MANE Select | NP_005949.1:p.Arg164= | |
XM_011532002.3:c.237T>C | XP_011530304.1:p.Arg79= | |
XR_939589.2:n.1982-11394A>G | ||
XR_939590.2:n.162-11394A>G |