Canonical Allele Identifier: CA2171769044
Community Standard Title: NM_002225.5(IVD):c.1174C= (p.Arg392=)
Gene: IVD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40418165C= , CM000677.2:g.40418165C= GRCh38
NC_000015.9:g.40710364C= , CM000677.1:g.40710364C= GRCh37
NC_000015.8:g.38497656C= NCBI36
NG_011986.1:g.17679C=
NG_011986.2:g.17681C=

Transcript Alleles

HGVS Amino-acid Change
NM_002225.5:c.1174C= MANE Select NP_002216.3:p.Arg392=
ENST00000487418.8:c.1174C= MANE Select ENSP00000418397.3:p.Arg392=
NM_001159508.1:c.1093C= NP_001152980.1:p.Arg365=
NM_001159508.2:c.1084C= NP_001152980.2:p.Arg362=
NM_001159508.3:c.1084C= NP_001152980.2:p.Arg362=
NM_001354597.2:c.1126C= NP_001341526.1:p.Arg376=
NM_001354597.3:c.1126C= NP_001341526.1:p.Arg376=
NM_001354598.2:c.1138+1803C= NP_001341527.2:n.1138+1803C=
NM_001354598.3:c.1138+1803C= NP_001341527.2:n.1138+1803C=
NM_001354599.2:c.1261C= NP_001341528.2:p.Arg421=
NM_001354599.3:c.1261C= NP_001341528.2:p.Arg421=
NM_001354600.2:c.1225+1803C= NP_001341529.2:n.1225+1803C=
NM_001354600.3:c.1225+1803C= NP_001341529.2:n.1225+1803C=
NM_001354601.2:c.1138+1803C= NP_001341530.2:n.1138+1803C=
NM_001354601.3:c.1138+1803C= NP_001341530.2:n.1138+1803C=
NM_002225.3:c.1183C= NP_002216.2:p.Arg395=
NM_002225.4:c.1174C= NP_002216.3:p.Arg392=
NR_148925.1:n.1548+1803C=
NR_148925.2:n.1550+1803C=
ENST00000466756.2:c.89+1803C=
ENST00000473112.6:c.719+2683C=
ENST00000479013.6:c.1093C= ENSP00000417990.2:p.Arg365=
ENST00000479013.7:c.1084C= ENSP00000417990.3:p.Arg362=
ENST00000481262.6:c.650+1803C=
ENST00000487418.6:c.1183C= ENSP00000418397.2:p.Arg395=
ENST00000491554.6:c.535+1803C= ENSP00000453146.1:n.535+1803C=
ENST00000497252.5:n.555C=
ENST00000497816.1:n.551C=
ENST00000559575.5:c.102-1015C=
ENST00000650656.1:c.1093C= ENSP00000498731.1:p.Arg365=
ENST00000651168.1:c.1183C= ENSP00000499074.1:p.Arg395=
XM_005254350.2:c.1147+1803C= XP_005254407.1:n.1147+1803C=
XM_005254356.2:c.875+2683C= XP_005254413.1:n.875+2683C=
XM_006720491.2:c.1090+1803C= XP_006720554.1:n.1090+1803C=
XM_006720492.2:c.1147+1803C= XP_006720555.1:n.1147+1803C=
XM_006720493.2:c.1147+1803C= XP_006720556.1:n.1147+1803C=
XM_006720494.2:c.1148-1015C= XP_006720557.1:n.1148-1015C=
XM_006720495.2:c.969+2683C= XP_006720558.1:n.969+2683C=
XM_006720495.3:c.969+2683C= XP_006720558.1:n.969+2683C=
XM_011521523.1:c.1147+1803C= XP_011519825.1:n.1147+1803C=
XM_017022149.1:c.1234+1803C= XP_016877638.1:n.1234+1803C=
XM_017022150.1:c.1234+1803C= XP_016877639.1:n.1234+1803C=
XM_017022153.1:c.1234+1803C= XP_016877642.1:n.1234+1803C=
XM_017022154.2:c.1213C= XP_016877643.1:p.Arg405=
XM_017022155.2:c.1235-1015C= XP_016877644.1:n.1235-1015C=
XM_017022157.1:c.1056+2683C= XP_016877646.1:n.1056+2683C=
XR_001751263.1:n.1533C=
XR_243097.3:n.1089C=
XR_243098.2:n.1053+1803C=
XR_429453.2:n.1284C=