Canonical Allele Identifier: CA489741155

Gene: IVD

Linked Data

• ClinVar Variation Id: 1143813
• ClinVar RCV Id: RCV001482102
• dbSNP Id: rs2141331622
• MyVariant Identifiers: chr15:g.40703842G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40411643G>C , CM000677.2:g.40411643G>C	GRCh38
NC_000015.9:g.40703842G>C , CM000677.1:g.40703842G>C	GRCh37
NC_000015.8:g.38491134G>C	NCBI36
NG_011986.1:g.11157G>C
NG_011986.2:g.11159G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000479013.7:c.549G>C	ENSP00000417990.3:p.Leu183=
ENST00000487418.8:c.639G>C MANE Select	ENSP00000418397.3:p.Leu213=
ENST00000650656.1:c.558G>C	ENSP00000498731.1:p.Leu186=
ENST00000651168.1:c.648G>C	ENSP00000499074.1:p.Leu216=
ENST00000473112.6:c.398G>C
ENST00000479013.6:c.558G>C	ENSP00000417990.2:p.Leu186=
ENST00000481262.6:c.245G>C
ENST00000484250.1:n.262G>C
ENST00000487418.6:c.648G>C	ENSP00000418397.2:p.Leu216=
ENST00000491554.6:c.36G>C	ENSP00000453146.1:p.Leu12=
ENST00000558610.5:c.591G>C	ENSP00000453821.1:p.Leu197=
NM_001159508.1:c.558G>C	NP_001152980.1:p.Leu186=
NM_002225.3:c.648G>C	NP_002216.2:p.Leu216=
XM_005254350.2:c.648G>C	XP_005254407.1:p.Leu216=
XM_005254356.2:c.648G>C	XP_005254413.1:p.Leu216=
XM_006720491.2:c.591G>C	XP_006720554.1:p.Leu197=
XM_006720492.2:c.648G>C	XP_006720555.1:p.Leu216=
XM_006720493.2:c.648G>C	XP_006720556.1:p.Leu216=
XM_006720494.2:c.648G>C	XP_006720557.1:p.Leu216=
XM_006720495.2:c.648G>C	XP_006720558.1:p.Leu216=
XM_011521523.1:c.648G>C	XP_011519825.1:p.Leu216=
XM_011521524.1:c.648G>C	XP_011519826.1:p.Leu216=
XR_243097.3:n.648G>C
XR_243098.2:n.648G>C
XR_429453.2:n.749G>C
NM_001159508.2:c.549G>C	NP_001152980.2:p.Leu183=
NM_001354597.2:c.591G>C	NP_001341526.1:p.Leu197=
NM_001354598.2:c.639G>C	NP_001341527.2:p.Leu213=
NM_001354599.2:c.726G>C	NP_001341528.2:p.Leu242=
NM_001354600.2:c.726G>C	NP_001341529.2:p.Leu242=
NM_001354601.2:c.639G>C	NP_001341530.2:p.Leu213=
NM_002225.4:c.639G>C	NP_002216.3:p.Leu213=
NR_148925.1:n.1049G>C
XM_006720495.3:c.648G>C	XP_006720558.1:p.Leu216=
XM_017022149.1:c.735G>C	XP_016877638.1:p.Leu245=
XM_017022150.1:c.735G>C	XP_016877639.1:p.Leu245=
XM_017022153.1:c.735G>C	XP_016877642.1:p.Leu245=
XM_017022154.2:c.678G>C	XP_016877643.1:p.Leu226=
XM_017022155.2:c.735G>C	XP_016877644.1:p.Leu245=
XM_017022157.1:c.735G>C	XP_016877646.1:p.Leu245=
XM_017022158.2:c.735G>C	XP_016877647.1:p.Leu245=
XR_001751263.1:n.998G>C
XR_001751264.1:n.1039G>C
NM_001159508.3:c.549G>C	NP_001152980.2:p.Leu183=
NM_001354597.3:c.591G>C	NP_001341526.1:p.Leu197=
NM_001354598.3:c.639G>C	NP_001341527.2:p.Leu213=
NM_001354599.3:c.726G>C	NP_001341528.2:p.Leu242=
NM_001354600.3:c.726G>C	NP_001341529.2:p.Leu242=
NM_001354601.3:c.639G>C	NP_001341530.2:p.Leu213=
NM_002225.5:c.639G>C MANE Select	NP_002216.3:p.Leu213=
NR_148925.2:n.1051G>C