Canonical Allele Identifier: CA7480878

Gene: IVD

Linked Data

• ClinVar Variation Id: 315803
• ClinVar RCV Id: RCV000361125 ; RCV000433639
• dbSNP Id: rs115077254
• ExAC: 15:40708484 C / T
• gnomAD v2: 15-40708484-C-T
• gnomAD v3: 15-40416285-C-T
• gnomAD v4: 15-40416285-C-T
• MyVariant Identifiers: chr15:g.40708484C>T (hg19) ; chr15:g.40416285C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40416285C>T , CM000677.2:g.40416285C>T	GRCh38
NC_000015.9:g.40708484C>T , CM000677.1:g.40708484C>T	GRCh37
NC_000015.8:g.38495776C>T	NCBI36
NG_011986.1:g.15799C>T
NG_011986.2:g.15801C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000479013.7:c.976-5C>T	ENSP00000417990.3:n.976-5C>T
ENST00000487418.8:c.1066-5C>T MANE Select	ENSP00000418397.3:n.1066-5C>T
ENST00000650656.1:c.985-5C>T	ENSP00000498731.1:n.985-5C>T
ENST00000651168.1:c.1075-5C>T	ENSP00000499074.1:n.1075-5C>T
ENST00000466756.2:c.17-5C>T
ENST00000473112.6:c.719+803C>T
ENST00000479013.6:c.985-5C>T	ENSP00000417990.2:n.985-5C>T
ENST00000481262.6:c.578-5C>T
ENST00000487418.6:c.1075-5C>T	ENSP00000418397.2:n.1075-5C>T
ENST00000491554.6:c.463-5C>T	ENSP00000453146.1:n.463-5C>T
ENST00000497252.5:n.447-5C>T
ENST00000497816.1:n.443-5C>T
ENST00000559575.5:c.29-5C>T
NM_001159508.1:c.985-5C>T	NP_001152980.1:n.985-5C>T
NM_002225.3:c.1075-5C>T	NP_002216.2:n.1075-5C>T
XM_005254350.2:c.1075-5C>T	XP_005254407.1:n.1075-5C>T
XM_005254356.2:c.875+803C>T	XP_005254413.1:n.875+803C>T
XM_006720491.2:c.1018-5C>T	XP_006720554.1:n.1018-5C>T
XM_006720492.2:c.1075-5C>T	XP_006720555.1:n.1075-5C>T
XM_006720493.2:c.1075-5C>T	XP_006720556.1:n.1075-5C>T
XM_006720494.2:c.1075-5C>T	XP_006720557.1:n.1075-5C>T
XM_006720495.2:c.969+803C>T	XP_006720558.1:n.969+803C>T
XM_011521523.1:c.1075-5C>T	XP_011519825.1:n.1075-5C>T
XR_243097.3:n.981-5C>T
XR_243098.2:n.981-5C>T
XR_429453.2:n.1176-5C>T
NM_001159508.2:c.976-5C>T	NP_001152980.2:n.976-5C>T
NM_001354597.2:c.1018-5C>T	NP_001341526.1:n.1018-5C>T
NM_001354598.2:c.1066-5C>T	NP_001341527.2:n.1066-5C>T
NM_001354599.2:c.1153-5C>T	NP_001341528.2:n.1153-5C>T
NM_001354600.2:c.1153-5C>T	NP_001341529.2:n.1153-5C>T
NM_001354601.2:c.1066-5C>T	NP_001341530.2:n.1066-5C>T
NM_002225.4:c.1066-5C>T	NP_002216.3:n.1066-5C>T
NR_148925.1:n.1476-5C>T
XM_006720495.3:c.969+803C>T	XP_006720558.1:n.969+803C>T
XM_017022149.1:c.1162-5C>T	XP_016877638.1:n.1162-5C>T
XM_017022150.1:c.1162-5C>T	XP_016877639.1:n.1162-5C>T
XM_017022153.1:c.1162-5C>T	XP_016877642.1:n.1162-5C>T
XM_017022154.2:c.1105-5C>T	XP_016877643.1:n.1105-5C>T
XM_017022155.2:c.1162-5C>T	XP_016877644.1:n.1162-5C>T
XM_017022157.1:c.1056+803C>T	XP_016877646.1:n.1056+803C>T
XR_001751263.1:n.1425-5C>T
XR_001751264.1:n.1532-5C>T
NM_001159508.3:c.976-5C>T	NP_001152980.2:n.976-5C>T
NM_001354597.3:c.1018-5C>T	NP_001341526.1:n.1018-5C>T
NM_001354598.3:c.1066-5C>T	NP_001341527.2:n.1066-5C>T
NM_001354599.3:c.1153-5C>T	NP_001341528.2:n.1153-5C>T
NM_001354600.3:c.1153-5C>T	NP_001341529.2:n.1153-5C>T
NM_001354601.3:c.1066-5C>T	NP_001341530.2:n.1066-5C>T
NM_002225.5:c.1066-5C>T MANE Select	NP_002216.3:n.1066-5C>T
NR_148925.2:n.1478-5C>T