Canonical Allele Identifier: CA489739814

Gene: IVD

Linked Data

• dbSNP Id: rs1566935817
• gnomAD v4: 15-40411265-C-T
• MyVariant Identifiers: chr15:g.40703464C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40411265C>T , CM000677.2:g.40411265C>T	GRCh38
NC_000015.9:g.40703464C>T , CM000677.1:g.40703464C>T	GRCh37
NC_000015.8:g.38490756C>T	NCBI36
NG_011986.1:g.10779C>T
NG_011986.2:g.10781C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000479013.7:c.372C>T	ENSP00000417990.3:p.Ile124=
ENST00000487418.8:c.462C>T MANE Select	ENSP00000418397.3:p.Ile154=
ENST00000610693.5:c.549C>T	ENSP00000479359.2:p.Ile183=
ENST00000650656.1:c.381C>T	ENSP00000498731.1:p.Ile127=
ENST00000651168.1:c.471C>T	ENSP00000499074.1:p.Ile157=
ENST00000473112.6:c.221C>T
ENST00000479013.6:c.381C>T	ENSP00000417990.2:p.Ile127=
ENST00000481262.6:c.68C>T
ENST00000484250.1:n.85C>T
ENST00000487418.6:c.471C>T	ENSP00000418397.2:p.Ile157=
ENST00000558610.5:c.414C>T	ENSP00000453821.1:p.Ile138=
ENST00000610693.4:c.558C>T	ENSP00000479359.1:p.Ile186=
NM_001159508.1:c.381C>T	NP_001152980.1:p.Ile127=
NM_002225.3:c.471C>T	NP_002216.2:p.Ile157=
XM_005254350.2:c.471C>T	XP_005254407.1:p.Ile157=
XM_005254356.2:c.471C>T	XP_005254413.1:p.Ile157=
XM_006720491.2:c.414C>T	XP_006720554.1:p.Ile138=
XM_006720492.2:c.471C>T	XP_006720555.1:p.Ile157=
XM_006720493.2:c.471C>T	XP_006720556.1:p.Ile157=
XM_006720494.2:c.471C>T	XP_006720557.1:p.Ile157=
XM_006720495.2:c.471C>T	XP_006720558.1:p.Ile157=
XM_011521523.1:c.471C>T	XP_011519825.1:p.Ile157=
XM_011521524.1:c.471C>T	XP_011519826.1:p.Ile157=
XR_243097.3:n.471C>T
XR_243098.2:n.471C>T
XR_429453.2:n.572C>T
NM_001159508.2:c.372C>T	NP_001152980.2:p.Ile124=
NM_001354597.2:c.414C>T	NP_001341526.1:p.Ile138=
NM_001354598.2:c.462C>T	NP_001341527.2:p.Ile154=
NM_001354599.2:c.549C>T	NP_001341528.2:p.Ile183=
NM_001354600.2:c.549C>T	NP_001341529.2:p.Ile183=
NM_001354601.2:c.462C>T	NP_001341530.2:p.Ile154=
NM_002225.4:c.462C>T	NP_002216.3:p.Ile154=
NR_148925.1:n.872C>T
XM_006720495.3:c.471C>T	XP_006720558.1:p.Ile157=
XM_017022149.1:c.558C>T	XP_016877638.1:p.Ile186=
XM_017022150.1:c.558C>T	XP_016877639.1:p.Ile186=
XM_017022153.1:c.558C>T	XP_016877642.1:p.Ile186=
XM_017022154.2:c.501C>T	XP_016877643.1:p.Ile167=
XM_017022155.2:c.558C>T	XP_016877644.1:p.Ile186=
XM_017022157.1:c.558C>T	XP_016877646.1:p.Ile186=
XM_017022158.2:c.558C>T	XP_016877647.1:p.Ile186=
XR_001751263.1:n.821C>T
XR_001751264.1:n.862C>T
NM_001159508.3:c.372C>T	NP_001152980.2:p.Ile124=
NM_001354597.3:c.414C>T	NP_001341526.1:p.Ile138=
NM_001354598.3:c.462C>T	NP_001341527.2:p.Ile154=
NM_001354599.3:c.549C>T	NP_001341528.2:p.Ile183=
NM_001354600.3:c.549C>T	NP_001341529.2:p.Ile183=
NM_001354601.3:c.462C>T	NP_001341530.2:p.Ile154=
NM_002225.5:c.462C>T MANE Select	NP_002216.3:p.Ile154=
NR_148925.2:n.874C>T