Canonical Allele Identifier: CA391745815
Gene: IVD HGNC NCBI

Linked Data

ClinVar Variation Id: 1324602
ClinVar RCV Id: RCV001782322
dbSNP Id: rs2141304438

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40407958G>A , CM000677.2:g.40407958G>A GRCh38
NC_000015.9:g.40700157G>A , CM000677.1:g.40700157G>A GRCh37
NC_000015.8:g.38487449G>A NCBI36
NG_011986.1:g.7472G>A
NG_011986.2:g.7474G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000479013.7:c.164G>A ENSP00000417990.3:p.Gly55Glu
ENST00000487418.8:c.254G>A MANE Select ENSP00000418397.3:p.Gly85Glu
ENST00000610693.5:c.341G>A ENSP00000479359.2:p.Gly114Glu
ENST00000650656.1:c.173G>A ENSP00000498731.1:p.Gly58Glu
ENST00000651168.1:c.263G>A ENSP00000499074.1:p.Gly88Glu
ENST00000473112.6:c.13G>A
ENST00000479013.6:c.173G>A ENSP00000417990.2:p.Gly58Glu
ENST00000487418.6:c.263G>A ENSP00000418397.2:p.Gly88Glu
ENST00000558610.5:c.206G>A ENSP00000453821.1:p.Gly69Glu
ENST00000610693.4:c.350G>A ENSP00000479359.1:p.Gly117Glu
NM_001159508.1:c.173G>A NP_001152980.1:p.Gly58Glu
NM_002225.3:c.263G>A NP_002216.2:p.Gly88Glu
XM_005254350.2:c.263G>A XP_005254407.1:p.Gly88Glu
XM_005254356.2:c.263G>A XP_005254413.1:p.Gly88Glu
XM_006720491.2:c.206G>A XP_006720554.1:p.Gly69Glu
XM_006720492.2:c.263G>A XP_006720555.1:p.Gly88Glu
XM_006720493.2:c.263G>A XP_006720556.1:p.Gly88Glu
XM_006720494.2:c.263G>A XP_006720557.1:p.Gly88Glu
XM_006720495.2:c.263G>A XP_006720558.1:p.Gly88Glu
XM_011521523.1:c.263G>A XP_011519825.1:p.Gly88Glu
XM_011521524.1:c.263G>A XP_011519826.1:p.Gly88Glu
XR_243097.3:n.263G>A
XR_243098.2:n.263G>A
XR_429453.2:n.364G>A
NM_001159508.2:c.164G>A NP_001152980.2:p.Gly55Glu
NM_001354597.2:c.206G>A NP_001341526.1:p.Gly69Glu
NM_001354598.2:c.254G>A NP_001341527.2:p.Gly85Glu
NM_001354599.2:c.341G>A NP_001341528.2:p.Gly114Glu
NM_001354600.2:c.341G>A NP_001341529.2:p.Gly114Glu
NM_001354601.2:c.254G>A NP_001341530.2:p.Gly85Glu
NM_002225.4:c.254G>A NP_002216.3:p.Gly85Glu
NR_148925.1:n.664G>A
XM_006720495.3:c.263G>A XP_006720558.1:p.Gly88Glu
XM_017022149.1:c.350G>A XP_016877638.1:p.Gly117Glu
XM_017022150.1:c.350G>A XP_016877639.1:p.Gly117Glu
XM_017022153.1:c.350G>A XP_016877642.1:p.Gly117Glu
XM_017022154.2:c.293G>A XP_016877643.1:p.Gly98Glu
XM_017022155.2:c.350G>A XP_016877644.1:p.Gly117Glu
XM_017022157.1:c.350G>A XP_016877646.1:p.Gly117Glu
XM_017022158.2:c.350G>A XP_016877647.1:p.Gly117Glu
XR_001751263.1:n.613G>A
XR_001751264.1:n.654G>A
NM_001159508.3:c.164G>A NP_001152980.2:p.Gly55Glu
NM_001354597.3:c.206G>A NP_001341526.1:p.Gly69Glu
NM_001354598.3:c.254G>A NP_001341527.2:p.Gly85Glu
NM_001354599.3:c.341G>A NP_001341528.2:p.Gly114Glu
NM_001354600.3:c.341G>A NP_001341529.2:p.Gly114Glu
NM_001354601.3:c.254G>A NP_001341530.2:p.Gly85Glu
NM_002225.5:c.254G>A MANE Select NP_002216.3:p.Gly85Glu
NR_148925.2:n.666G>A