Canonical Allele Identifier: CA147573

Gene: IVD

Linked Data

• ClinVar Variation Id: 94057
• ClinVar RCV Id: RCV000080001 ; RCV000315524 ; RCV001711232
• dbSNP Id: rs2229312
• ExAC: 15:40705225 C / T
• gnomAD v2: 15-40705225-C-T
• gnomAD v3: 15-40413026-C-T
• gnomAD v4: 15-40413026-C-T
• MyVariant Identifiers: chr15:g.40705225C>T (hg19) ; chr15:g.40413026C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40413026C>T , CM000677.2:g.40413026C>T	GRCh38
NC_000015.9:g.40705225C>T , CM000677.1:g.40705225C>T	GRCh37
NC_000015.8:g.38492517C>T	NCBI36
NG_011986.1:g.12540C>T
NG_011986.2:g.12542C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000479013.7:c.633C>T	ENSP00000417990.3:p.Asp211=
ENST00000487418.8:c.723C>T MANE Select	ENSP00000418397.3:p.Asp241=
ENST00000650656.1:c.642C>T	ENSP00000498731.1:p.Asp214=
ENST00000651168.1:c.732C>T	ENSP00000499074.1:p.Asp244=
ENST00000473112.6:c.482C>T
ENST00000479013.6:c.642C>T	ENSP00000417990.2:p.Asp214=
ENST00000481262.6:c.329C>T
ENST00000484250.1:n.346C>T
ENST00000487418.6:c.732C>T	ENSP00000418397.2:p.Asp244=
ENST00000491554.6:c.120C>T	ENSP00000453146.1:p.Asp40=
ENST00000497252.5:n.104C>T
NM_001159508.1:c.642C>T	NP_001152980.1:p.Asp214=
NM_002225.3:c.732C>T	NP_002216.2:p.Asp244=
XM_005254350.2:c.732C>T	XP_005254407.1:p.Asp244=
XM_005254356.2:c.732C>T	XP_005254413.1:p.Asp244=
XM_006720491.2:c.675C>T	XP_006720554.1:p.Asp225=
XM_006720492.2:c.732C>T	XP_006720555.1:p.Asp244=
XM_006720493.2:c.732C>T	XP_006720556.1:p.Asp244=
XM_006720494.2:c.732C>T	XP_006720557.1:p.Asp244=
XM_006720495.2:c.732C>T	XP_006720558.1:p.Asp244=
XM_011521523.1:c.732C>T	XP_011519825.1:p.Asp244=
XM_011521524.1:c.732C>T	XP_011519826.1:p.Asp244=
XR_243097.3:n.732C>T
XR_243098.2:n.732C>T
XR_429453.2:n.833C>T
NM_001159508.2:c.633C>T	NP_001152980.2:p.Asp211=
NM_001354597.2:c.675C>T	NP_001341526.1:p.Asp225=
NM_001354598.2:c.723C>T	NP_001341527.2:p.Asp241=
NM_001354599.2:c.810C>T	NP_001341528.2:p.Asp270=
NM_001354600.2:c.810C>T	NP_001341529.2:p.Asp270=
NM_001354601.2:c.723C>T	NP_001341530.2:p.Asp241=
NM_002225.4:c.723C>T	NP_002216.3:p.Asp241=
NR_148925.1:n.1133C>T
XM_006720495.3:c.732C>T	XP_006720558.1:p.Asp244=
XM_017022149.1:c.819C>T	XP_016877638.1:p.Asp273=
XM_017022150.1:c.819C>T	XP_016877639.1:p.Asp273=
XM_017022153.1:c.819C>T	XP_016877642.1:p.Asp273=
XM_017022154.2:c.762C>T	XP_016877643.1:p.Asp254=
XM_017022155.2:c.819C>T	XP_016877644.1:p.Asp273=
XM_017022157.1:c.819C>T	XP_016877646.1:p.Asp273=
XM_017022158.2:c.819C>T	XP_016877647.1:p.Asp273=
XR_001751263.1:n.1082C>T
XR_001751264.1:n.1123C>T
NM_001159508.3:c.633C>T	NP_001152980.2:p.Asp211=
NM_001354597.3:c.675C>T	NP_001341526.1:p.Asp225=
NM_001354598.3:c.723C>T	NP_001341527.2:p.Asp241=
NM_001354599.3:c.810C>T	NP_001341528.2:p.Asp270=
NM_001354600.3:c.810C>T	NP_001341529.2:p.Asp270=
NM_001354601.3:c.723C>T	NP_001341530.2:p.Asp241=
NM_002225.5:c.723C>T MANE Select	NP_002216.3:p.Asp241=
NR_148925.2:n.1135C>T