HGVS | Genome Assembly |
---|---|
NC_000002.12:g.1173150C>T , CM000664.2:g.1173150C>T | GRCh38 |
NC_000002.11:g.1168836C>T , CM000664.1:g.1168836C>T | GRCh37 |
NC_000002.10:g.1158836C>T | NCBI36 |
NG_029707.1:g.227283C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000308624.10:c.558C>T MANE Select | ENSP00000311837.5:p.Ser186= | |
ENST00000308624.9:c.558C>T | ENSP00000311837.5:p.Ser186= | |
ENST00000407292.1:c.211-35953C>T | ENSP00000385020.1:n.211-35953C>T | |
ENST00000463442.5:n.436C>T | ||
ENST00000467759.5:n.190C>T | ||
ENST00000475201.5:n.190C>T | ||
ENST00000494178.1:n.310C>T | ||
NM_018968.3:c.558C>T | NP_061841.2:p.Ser186= | |
XM_011510364.1:c.561C>T | XP_011508666.1:p.Ser187= | |
XM_011510365.1:c.381C>T | XP_011508667.1:p.Ser127= | |
XM_011510366.1:c.219C>T | XP_011508668.1:p.Ser73= | |
XM_011510367.1:c.219C>T | XP_011508669.1:p.Ser73= | |
XM_011510368.1:c.219C>T | XP_011508670.1:p.Ser73= | |
XM_011510366.2:c.219C>T | XP_011508668.1:p.Ser73= | |
XM_017004361.1:c.561C>T | XP_016859850.1:p.Ser187= | |
XM_017004362.1:c.561C>T | XP_016859851.1:p.Ser187= | |
XM_017004363.1:c.381C>T | XP_016859852.1:p.Ser127= | |
XM_017004364.1:c.339C>T | XP_016859853.1:p.Ser113= | |
XM_017004365.1:c.561C>T | XP_016859854.1:p.Ser187= | |
XM_017004366.1:c.561C>T | XP_016859855.1:p.Ser187= | |
XM_017004367.1:c.219C>T | XP_016859856.1:p.Ser73= | |
XM_017004368.1:c.561C>T | XP_016859857.1:p.Ser187= | |
XM_017004369.1:c.561C>T | XP_016859858.1:p.Ser187= | |
XM_017004370.1:c.561C>T | XP_016859859.1:p.Ser187= | |
XM_017004371.1:c.561C>T | XP_016859860.1:p.Ser187= | |
XM_017004372.1:c.561C>T | XP_016859861.1:p.Ser187= | |
XM_017004373.2:c.-118C>T | XP_016859862.1:n.-118C>T | |
XM_017004374.1:c.561C>T | XP_016859863.1:p.Ser187= | |
XM_024452970.1:c.-118C>T | XP_024308738.1:n.-118C>T | |
NM_018968.4:c.558C>T MANE Select | NP_061841.2:p.Ser186= |