Canonical Allele Identifier: CA16041730
Gene: IVD HGNC NCBI

Linked Data

ClinVar Variation Id: 371148
ClinVar RCV Id: RCV000410323
dbSNP Id: rs1057517043
MyVariant Identifiers: chr15:g.40703753G>A (hg19) chr15:g.40411554G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40411554G>A , CM000677.2:g.40411554G>A GRCh38
NC_000015.9:g.40703753G>A , CM000677.1:g.40703753G>A GRCh37
NC_000015.8:g.38491045G>A NCBI36
NG_011986.1:g.11068G>A
NG_011986.2:g.11070G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000479013.7:c.461-1G>A ENSP00000417990.3:n.461-1G>A
ENST00000487418.8:c.551-1G>A MANE Select ENSP00000418397.3:n.551-1G>A
ENST00000650656.1:c.470-1G>A ENSP00000498731.1:n.470-1G>A
ENST00000651168.1:c.560-1G>A ENSP00000499074.1:n.560-1G>A
ENST00000473112.6:c.310-1G>A
ENST00000479013.6:c.470-1G>A ENSP00000417990.2:n.470-1G>A
ENST00000481262.6:c.157-1G>A
ENST00000484250.1:n.174-1G>A
ENST00000487418.6:c.560-1G>A ENSP00000418397.2:n.560-1G>A
ENST00000558610.5:c.503-1G>A ENSP00000453821.1:n.503-1G>A
NM_001159508.1:c.470-1G>A NP_001152980.1:n.470-1G>A
NM_002225.3:c.560-1G>A NP_002216.2:n.560-1G>A
XM_005254350.2:c.560-1G>A XP_005254407.1:n.560-1G>A
XM_005254356.2:c.560-1G>A XP_005254413.1:n.560-1G>A
XM_006720491.2:c.503-1G>A XP_006720554.1:n.503-1G>A
XM_006720492.2:c.560-1G>A XP_006720555.1:n.560-1G>A
XM_006720493.2:c.560-1G>A XP_006720556.1:n.560-1G>A
XM_006720494.2:c.560-1G>A XP_006720557.1:n.560-1G>A
XM_006720495.2:c.560-1G>A XP_006720558.1:n.560-1G>A
XM_011521523.1:c.560-1G>A XP_011519825.1:n.560-1G>A
XM_011521524.1:c.560-1G>A XP_011519826.1:n.560-1G>A
XR_243097.3:n.560-1G>A
XR_243098.2:n.560-1G>A
XR_429453.2:n.661-1G>A
NM_001159508.2:c.461-1G>A NP_001152980.2:n.461-1G>A
NM_001354597.2:c.503-1G>A NP_001341526.1:n.503-1G>A
NM_001354598.2:c.551-1G>A NP_001341527.2:n.551-1G>A
NM_001354599.2:c.638-1G>A NP_001341528.2:n.638-1G>A
NM_001354600.2:c.638-1G>A NP_001341529.2:n.638-1G>A
NM_001354601.2:c.551-1G>A NP_001341530.2:n.551-1G>A
NM_002225.4:c.551-1G>A NP_002216.3:n.551-1G>A
NR_148925.1:n.961-1G>A
XM_006720495.3:c.560-1G>A XP_006720558.1:n.560-1G>A
XM_017022149.1:c.647-1G>A XP_016877638.1:n.647-1G>A
XM_017022150.1:c.647-1G>A XP_016877639.1:n.647-1G>A
XM_017022153.1:c.647-1G>A XP_016877642.1:n.647-1G>A
XM_017022154.2:c.590-1G>A XP_016877643.1:n.590-1G>A
XM_017022155.2:c.647-1G>A XP_016877644.1:n.647-1G>A
XM_017022157.1:c.647-1G>A XP_016877646.1:n.647-1G>A
XM_017022158.2:c.647-1G>A XP_016877647.1:n.647-1G>A
XR_001751263.1:n.910-1G>A
XR_001751264.1:n.951-1G>A
NM_001159508.3:c.461-1G>A NP_001152980.2:n.461-1G>A
NM_001354597.3:c.503-1G>A NP_001341526.1:n.503-1G>A
NM_001354598.3:c.551-1G>A NP_001341527.2:n.551-1G>A
NM_001354599.3:c.638-1G>A NP_001341528.2:n.638-1G>A
NM_001354600.3:c.638-1G>A NP_001341529.2:n.638-1G>A
NM_001354601.3:c.551-1G>A NP_001341530.2:n.551-1G>A
NM_002225.5:c.551-1G>A MANE Select NP_002216.3:n.551-1G>A
NR_148925.2:n.963-1G>A
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