Canonical Allele Identifier: CA7480693

Gene: IVD

Linked Data

• ClinVar Variation Id: 1165423
• ClinVar RCV Id: RCV001512513
• dbSNP Id: rs754418427
• ExAC: 15:40703800 C / T
• gnomAD v2: 15-40703800-C-T
• gnomAD v3: 15-40411601-C-T
• gnomAD v4: 15-40411601-C-T
• MyVariant Identifiers: chr15:g.40703800C>T (hg19) ; chr15:g.40411601C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40411601C>T , CM000677.2:g.40411601C>T	GRCh38
NC_000015.9:g.40703800C>T , CM000677.1:g.40703800C>T	GRCh37
NC_000015.8:g.38491092C>T	NCBI36
NG_011986.1:g.11115C>T
NG_011986.2:g.11117C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000479013.7:c.507C>T	ENSP00000417990.3:p.Gly169=
ENST00000487418.8:c.597C>T MANE Select	ENSP00000418397.3:p.Gly199=
ENST00000650656.1:c.516C>T	ENSP00000498731.1:p.Gly172=
ENST00000651168.1:c.606C>T	ENSP00000499074.1:p.Gly202=
ENST00000473112.6:c.356C>T
ENST00000479013.6:c.516C>T	ENSP00000417990.2:p.Gly172=
ENST00000481262.6:c.203C>T
ENST00000484250.1:n.220C>T
ENST00000487418.6:c.606C>T	ENSP00000418397.2:p.Gly202=
ENST00000558610.5:c.549C>T	ENSP00000453821.1:p.Gly183=
NM_001159508.1:c.516C>T	NP_001152980.1:p.Gly172=
NM_002225.3:c.606C>T	NP_002216.2:p.Gly202=
XM_005254350.2:c.606C>T	XP_005254407.1:p.Gly202=
XM_005254356.2:c.606C>T	XP_005254413.1:p.Gly202=
XM_006720491.2:c.549C>T	XP_006720554.1:p.Gly183=
XM_006720492.2:c.606C>T	XP_006720555.1:p.Gly202=
XM_006720493.2:c.606C>T	XP_006720556.1:p.Gly202=
XM_006720494.2:c.606C>T	XP_006720557.1:p.Gly202=
XM_006720495.2:c.606C>T	XP_006720558.1:p.Gly202=
XM_011521523.1:c.606C>T	XP_011519825.1:p.Gly202=
XM_011521524.1:c.606C>T	XP_011519826.1:p.Gly202=
XR_243097.3:n.606C>T
XR_243098.2:n.606C>T
XR_429453.2:n.707C>T
NM_001159508.2:c.507C>T	NP_001152980.2:p.Gly169=
NM_001354597.2:c.549C>T	NP_001341526.1:p.Gly183=
NM_001354598.2:c.597C>T	NP_001341527.2:p.Gly199=
NM_001354599.2:c.684C>T	NP_001341528.2:p.Gly228=
NM_001354600.2:c.684C>T	NP_001341529.2:p.Gly228=
NM_001354601.2:c.597C>T	NP_001341530.2:p.Gly199=
NM_002225.4:c.597C>T	NP_002216.3:p.Gly199=
NR_148925.1:n.1007C>T
XM_006720495.3:c.606C>T	XP_006720558.1:p.Gly202=
XM_017022149.1:c.693C>T	XP_016877638.1:p.Gly231=
XM_017022150.1:c.693C>T	XP_016877639.1:p.Gly231=
XM_017022153.1:c.693C>T	XP_016877642.1:p.Gly231=
XM_017022154.2:c.636C>T	XP_016877643.1:p.Gly212=
XM_017022155.2:c.693C>T	XP_016877644.1:p.Gly231=
XM_017022157.1:c.693C>T	XP_016877646.1:p.Gly231=
XM_017022158.2:c.693C>T	XP_016877647.1:p.Gly231=
XR_001751263.1:n.956C>T
XR_001751264.1:n.997C>T
NM_001159508.3:c.507C>T	NP_001152980.2:p.Gly169=
NM_001354597.3:c.549C>T	NP_001341526.1:p.Gly183=
NM_001354598.3:c.597C>T	NP_001341527.2:p.Gly199=
NM_001354599.3:c.684C>T	NP_001341528.2:p.Gly228=
NM_001354600.3:c.684C>T	NP_001341529.2:p.Gly228=
NM_001354601.3:c.597C>T	NP_001341530.2:p.Gly199=
NM_002225.5:c.597C>T MANE Select	NP_002216.3:p.Gly199=
NR_148925.2:n.1009C>T