Canonical Allele Identifier: CA391724478

Gene: IVD

Linked Data

• ClinVar Variation Id: 529434
• ClinVar RCV Id: RCV000634868 ; RCV001265923
• dbSNP Id: rs1477527791
• gnomAD v3: 15-40418175-G-A
• gnomAD v4: 15-40418175-G-A
• COSMIC: COSM3815973
• MyVariant Identifiers: chr15:g.40710374G>A (hg19) ; chr15:g.40418175G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40418175G>A , CM000677.2:g.40418175G>A	GRCh38
NC_000015.9:g.40710374G>A , CM000677.1:g.40710374G>A	GRCh37
NC_000015.8:g.38497666G>A	NCBI36
NG_011986.1:g.17689G>A
NG_011986.2:g.17691G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000479013.7:c.1094G>A	ENSP00000417990.3:p.Arg365Gln
ENST00000487418.8:c.1184G>A MANE Select	ENSP00000418397.3:p.Arg395Gln
ENST00000650656.1:c.1103G>A	ENSP00000498731.1:p.Arg368Gln
ENST00000651168.1:c.1193G>A	ENSP00000499074.1:p.Arg398Gln
ENST00000466756.2:c.89+1813G>A
ENST00000473112.6:c.719+2693G>A
ENST00000479013.6:c.1103G>A	ENSP00000417990.2:p.Arg368Gln
ENST00000481262.6:c.650+1813G>A
ENST00000487418.6:c.1193G>A	ENSP00000418397.2:p.Arg398Gln
ENST00000491554.6:c.535+1813G>A	ENSP00000453146.1:n.535+1813G>A
ENST00000497252.5:n.565G>A
ENST00000497816.1:n.561G>A
ENST00000559575.5:c.102-1005G>A
NM_001159508.1:c.1103G>A	NP_001152980.1:p.Arg368Gln
NM_002225.3:c.1193G>A	NP_002216.2:p.Arg398Gln
XM_005254350.2:c.1147+1813G>A	XP_005254407.1:n.1147+1813G>A
XM_005254356.2:c.875+2693G>A	XP_005254413.1:n.875+2693G>A
XM_006720491.2:c.1090+1813G>A	XP_006720554.1:n.1090+1813G>A
XM_006720492.2:c.1147+1813G>A	XP_006720555.1:n.1147+1813G>A
XM_006720493.2:c.1147+1813G>A	XP_006720556.1:n.1147+1813G>A
XM_006720494.2:c.1148-1005G>A	XP_006720557.1:n.1148-1005G>A
XM_006720495.2:c.969+2693G>A	XP_006720558.1:n.969+2693G>A
XM_011521523.1:c.1147+1813G>A	XP_011519825.1:n.1147+1813G>A
XR_243097.3:n.1099G>A
XR_243098.2:n.1053+1813G>A
XR_429453.2:n.1294G>A
NM_001159508.2:c.1094G>A	NP_001152980.2:p.Arg365Gln
NM_001354597.2:c.1136G>A	NP_001341526.1:p.Arg379Gln
NM_001354598.2:c.1138+1813G>A	NP_001341527.2:n.1138+1813G>A
NM_001354599.2:c.1271G>A	NP_001341528.2:p.Arg424Gln
NM_001354600.2:c.1225+1813G>A	NP_001341529.2:n.1225+1813G>A
NM_001354601.2:c.1138+1813G>A	NP_001341530.2:n.1138+1813G>A
NM_002225.4:c.1184G>A	NP_002216.3:p.Arg395Gln
NR_148925.1:n.1548+1813G>A
XM_006720495.3:c.969+2693G>A	XP_006720558.1:n.969+2693G>A
XM_017022149.1:c.1234+1813G>A	XP_016877638.1:n.1234+1813G>A
XM_017022150.1:c.1234+1813G>A	XP_016877639.1:n.1234+1813G>A
XM_017022153.1:c.1234+1813G>A	XP_016877642.1:n.1234+1813G>A
XM_017022154.2:c.1223G>A	XP_016877643.1:p.Arg408Gln
XM_017022155.2:c.1235-1005G>A	XP_016877644.1:n.1235-1005G>A
XM_017022157.1:c.1056+2693G>A	XP_016877646.1:n.1056+2693G>A
XR_001751263.1:n.1543G>A
NM_001159508.3:c.1094G>A	NP_001152980.2:p.Arg365Gln
NM_001354597.3:c.1136G>A	NP_001341526.1:p.Arg379Gln
NM_001354598.3:c.1138+1813G>A	NP_001341527.2:n.1138+1813G>A
NM_001354599.3:c.1271G>A	NP_001341528.2:p.Arg424Gln
NM_001354600.3:c.1225+1813G>A	NP_001341529.2:n.1225+1813G>A
NM_001354601.3:c.1138+1813G>A	NP_001341530.2:n.1138+1813G>A
NM_002225.5:c.1184G>A MANE Select	NP_002216.3:p.Arg395Gln
NR_148925.2:n.1550+1813G>A