HGVS | Genome Assembly |
---|---|
NC_000022.11:g.32475018C>A , CM000684.2:g.32475018C>A | GRCh38 |
NC_000022.10:g.32871005C>A , CM000684.1:g.32871005C>A | GRCh37 |
NC_000022.9:g.31201005C>A | NCBI36 |
NG_016001.1:g.5299C>A | |
NG_016001.2:g.5299C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000266087.12:c.16C>A MANE Select | ENSP00000266087.7:p.Arg6= | |
ENST00000266087.11:c.16C>A | ENSP00000266087.7:p.Arg6= | |
ENST00000420700.5:c.16C>A | ENSP00000406155.1:p.Arg6= | |
ENST00000425028.5:c.16C>A | ENSP00000395823.1:p.Arg6= | |
ENST00000492535.1:n.4C>A | ||
NM_012179.3:c.16C>A | NP_036311.3:p.Arg6= | |
XM_011530106.1:c.-158C>A | XP_011528408.1:n.-158C>A | |
XM_024452207.1:c.-175C>A | XP_024307975.1:n.-175C>A | |
NM_012179.4:c.16C>A MANE Select | NP_036311.3:p.Arg6= |