Canonical Allele Identifier: CA7480881

Gene: IVD

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40416293T>C , CM000677.2:g.40416293T>C	GRCh38
NC_000015.9:g.40708492T>C , CM000677.1:g.40708492T>C	GRCh37
NC_000015.8:g.38495784T>C	NCBI36
NG_011986.1:g.15807T>C
NG_011986.2:g.15809T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000479013.7:c.979T>C	ENSP00000417990.3:p.Cys327Arg
ENST00000487418.8:c.1069T>C MANE Select	ENSP00000418397.3:p.Cys357Arg
ENST00000650656.1:c.988T>C	ENSP00000498731.1:p.Cys330Arg
ENST00000651168.1:c.1078T>C	ENSP00000499074.1:p.Cys360Arg
ENST00000466756.2:c.20T>C
ENST00000473112.6:c.719+811T>C
ENST00000479013.6:c.988T>C	ENSP00000417990.2:p.Cys330Arg
ENST00000481262.6:c.581T>C
ENST00000487418.6:c.1078T>C	ENSP00000418397.2:p.Cys360Arg
ENST00000491554.6:c.466T>C	ENSP00000453146.1:p.Cys156Arg
ENST00000497252.5:n.450T>C
ENST00000497816.1:n.446T>C
ENST00000559575.5:c.32T>C
NM_001159508.1:c.988T>C	NP_001152980.1:p.Cys330Arg
NM_002225.3:c.1078T>C	NP_002216.2:p.Cys360Arg
XM_005254350.2:c.1078T>C	XP_005254407.1:p.Cys360Arg
XM_005254356.2:c.875+811T>C	XP_005254413.1:n.875+811T>C
XM_006720491.2:c.1021T>C	XP_006720554.1:p.Cys341Arg
XM_006720492.2:c.1078T>C	XP_006720555.1:p.Cys360Arg
XM_006720493.2:c.1078T>C	XP_006720556.1:p.Cys360Arg
XM_006720494.2:c.1078T>C	XP_006720557.1:p.Cys360Arg
XM_006720495.2:c.969+811T>C	XP_006720558.1:n.969+811T>C
XM_011521523.1:c.1078T>C	XP_011519825.1:p.Cys360Arg
XR_243097.3:n.984T>C
XR_243098.2:n.984T>C
XR_429453.2:n.1179T>C
NM_001159508.2:c.979T>C	NP_001152980.2:p.Cys327Arg
NM_001354597.2:c.1021T>C	NP_001341526.1:p.Cys341Arg
NM_001354598.2:c.1069T>C	NP_001341527.2:p.Cys357Arg
NM_001354599.2:c.1156T>C	NP_001341528.2:p.Cys386Arg
NM_001354600.2:c.1156T>C	NP_001341529.2:p.Cys386Arg
NM_001354601.2:c.1069T>C	NP_001341530.2:p.Cys357Arg
NM_002225.4:c.1069T>C	NP_002216.3:p.Cys357Arg
NR_148925.1:n.1479T>C
XM_006720495.3:c.969+811T>C	XP_006720558.1:n.969+811T>C
XM_017022149.1:c.1165T>C	XP_016877638.1:p.Cys389Arg
XM_017022150.1:c.1165T>C	XP_016877639.1:p.Cys389Arg
XM_017022153.1:c.1165T>C	XP_016877642.1:p.Cys389Arg
XM_017022154.2:c.1108T>C	XP_016877643.1:p.Cys370Arg
XM_017022155.2:c.1165T>C	XP_016877644.1:p.Cys389Arg
XM_017022157.1:c.1056+811T>C	XP_016877646.1:n.1056+811T>C
XR_001751263.1:n.1428T>C
XR_001751264.1:n.1535T>C
NM_001159508.3:c.979T>C	NP_001152980.2:p.Cys327Arg
NM_001354597.3:c.1021T>C	NP_001341526.1:p.Cys341Arg
NM_001354598.3:c.1069T>C	NP_001341527.2:p.Cys357Arg
NM_001354599.3:c.1156T>C	NP_001341528.2:p.Cys386Arg
NM_001354600.3:c.1156T>C	NP_001341529.2:p.Cys386Arg
NM_001354601.3:c.1069T>C	NP_001341530.2:p.Cys357Arg
NM_002225.5:c.1069T>C MANE Select	NP_002216.3:p.Cys357Arg
NR_148925.2:n.1481T>C