Canonical Allele Identifier: CA489745890

Gene: IVD

Linked Data

• ClinVar Variation Id: 1978959
• ClinVar RCV Id: RCV002766007
• dbSNP Id: rs1188507536
• gnomAD v3: 15-40418179-T-C
• gnomAD v4: 15-40418179-T-C
• MyVariant Identifiers: chr15:g.40710378T>C (hg19) ; chr15:g.40418179T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40418179T>C , CM000677.2:g.40418179T>C	GRCh38
NC_000015.9:g.40710378T>C , CM000677.1:g.40710378T>C	GRCh37
NC_000015.8:g.38497670T>C	NCBI36
NG_011986.1:g.17693T>C
NG_011986.2:g.17695T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000479013.7:c.1098T>C	ENSP00000417990.3:p.Asp366=
ENST00000487418.8:c.1188T>C MANE Select	ENSP00000418397.3:p.Asp396=
ENST00000650656.1:c.1107T>C	ENSP00000498731.1:p.Asp369=
ENST00000651168.1:c.1197T>C	ENSP00000499074.1:p.Asp399=
ENST00000466756.2:c.89+1817T>C
ENST00000473112.6:c.719+2697T>C
ENST00000479013.6:c.1107T>C	ENSP00000417990.2:p.Asp369=
ENST00000481262.6:c.650+1817T>C
ENST00000487418.6:c.1197T>C	ENSP00000418397.2:p.Asp399=
ENST00000491554.6:c.535+1817T>C	ENSP00000453146.1:n.535+1817T>C
ENST00000497816.1:n.565T>C
ENST00000559575.5:c.102-1001T>C
NM_001159508.1:c.1107T>C	NP_001152980.1:p.Asp369=
NM_002225.3:c.1197T>C	NP_002216.2:p.Asp399=
XM_005254350.2:c.1147+1817T>C	XP_005254407.1:n.1147+1817T>C
XM_005254356.2:c.875+2697T>C	XP_005254413.1:n.875+2697T>C
XM_006720491.2:c.1090+1817T>C	XP_006720554.1:n.1090+1817T>C
XM_006720492.2:c.1147+1817T>C	XP_006720555.1:n.1147+1817T>C
XM_006720493.2:c.1147+1817T>C	XP_006720556.1:n.1147+1817T>C
XM_006720494.2:c.1148-1001T>C	XP_006720557.1:n.1148-1001T>C
XM_006720495.2:c.969+2697T>C	XP_006720558.1:n.969+2697T>C
XM_011521523.1:c.1147+1817T>C	XP_011519825.1:n.1147+1817T>C
XR_243097.3:n.1103T>C
XR_243098.2:n.1053+1817T>C
XR_429453.2:n.1298T>C
NM_001159508.2:c.1098T>C	NP_001152980.2:p.Asp366=
NM_001354597.2:c.1140T>C	NP_001341526.1:p.Asp380=
NM_001354598.2:c.1138+1817T>C	NP_001341527.2:n.1138+1817T>C
NM_001354599.2:c.1275T>C	NP_001341528.2:p.Asp425=
NM_001354600.2:c.1225+1817T>C	NP_001341529.2:n.1225+1817T>C
NM_001354601.2:c.1138+1817T>C	NP_001341530.2:n.1138+1817T>C
NM_002225.4:c.1188T>C	NP_002216.3:p.Asp396=
NR_148925.1:n.1548+1817T>C
XM_006720495.3:c.969+2697T>C	XP_006720558.1:n.969+2697T>C
XM_017022149.1:c.1234+1817T>C	XP_016877638.1:n.1234+1817T>C
XM_017022150.1:c.1234+1817T>C	XP_016877639.1:n.1234+1817T>C
XM_017022153.1:c.1234+1817T>C	XP_016877642.1:n.1234+1817T>C
XM_017022154.2:c.1227T>C	XP_016877643.1:p.Asp409=
XM_017022155.2:c.1235-1001T>C	XP_016877644.1:n.1235-1001T>C
XM_017022157.1:c.1056+2697T>C	XP_016877646.1:n.1056+2697T>C
XR_001751263.1:n.1547T>C
NM_001159508.3:c.1098T>C	NP_001152980.2:p.Asp366=
NM_001354597.3:c.1140T>C	NP_001341526.1:p.Asp380=
NM_001354598.3:c.1138+1817T>C	NP_001341527.2:n.1138+1817T>C
NM_001354599.3:c.1275T>C	NP_001341528.2:p.Asp425=
NM_001354600.3:c.1225+1817T>C	NP_001341529.2:n.1225+1817T>C
NM_001354601.3:c.1138+1817T>C	NP_001341530.2:n.1138+1817T>C
NM_002225.5:c.1188T>C MANE Select	NP_002216.3:p.Asp396=
NR_148925.2:n.1550+1817T>C