Canonical Allele Identifier: CA391723926

Gene: IVD

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40416360T>C , CM000677.2:g.40416360T>C	GRCh38
NC_000015.9:g.40708559T>C , CM000677.1:g.40708559T>C	GRCh37
NC_000015.8:g.38495851T>C	NCBI36
NG_011986.1:g.15874T>C
NG_011986.2:g.15876T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002225.5:c.1136T>C MANE Select	NP_002216.3:p.Phe379Ser
ENST00000487418.8:c.1136T>C MANE Select	ENSP00000418397.3:p.Phe379Ser
NM_001159508.1:c.1055T>C	NP_001152980.1:p.Phe352Ser
NM_001159508.2:c.1046T>C	NP_001152980.2:p.Phe349Ser
NM_001159508.3:c.1046T>C	NP_001152980.2:p.Phe349Ser
NM_001354597.2:c.1088T>C	NP_001341526.1:p.Phe363Ser
NM_001354597.3:c.1088T>C	NP_001341526.1:p.Phe363Ser
NM_001354598.2:c.1136T>C	NP_001341527.2:p.Phe379Ser
NM_001354598.3:c.1136T>C	NP_001341527.2:p.Phe379Ser
NM_001354599.2:c.1223T>C	NP_001341528.2:p.Phe408Ser
NM_001354599.3:c.1223T>C	NP_001341528.2:p.Phe408Ser
NM_001354600.2:c.1223T>C	NP_001341529.2:p.Phe408Ser
NM_001354600.3:c.1223T>C	NP_001341529.2:p.Phe408Ser
NM_001354601.2:c.1136T>C	NP_001341530.2:p.Phe379Ser
NM_001354601.3:c.1136T>C	NP_001341530.2:p.Phe379Ser
NM_002225.3:c.1145T>C	NP_002216.2:p.Phe382Ser
NM_002225.4:c.1136T>C	NP_002216.3:p.Phe379Ser
NR_148925.1:n.1546T>C
NR_148925.2:n.1548T>C
ENST00000466756.2:c.87T>C
ENST00000473112.6:c.719+878T>C
ENST00000479013.6:c.1055T>C	ENSP00000417990.2:p.Phe352Ser
ENST00000479013.7:c.1046T>C	ENSP00000417990.3:p.Phe349Ser
ENST00000481262.6:c.648T>C
ENST00000487418.6:c.1145T>C	ENSP00000418397.2:p.Phe382Ser
ENST00000491554.6:c.533T>C	ENSP00000453146.1:p.Phe178Ser
ENST00000497252.5:n.517T>C
ENST00000497816.1:n.513T>C
ENST00000559575.5:c.99T>C
ENST00000650656.1:c.1055T>C	ENSP00000498731.1:p.Phe352Ser
ENST00000651168.1:c.1145T>C	ENSP00000499074.1:p.Phe382Ser
XM_005254350.2:c.1145T>C	XP_005254407.1:p.Phe382Ser
XM_005254356.2:c.875+878T>C	XP_005254413.1:n.875+878T>C
XM_006720491.2:c.1088T>C	XP_006720554.1:p.Phe363Ser
XM_006720492.2:c.1145T>C	XP_006720555.1:p.Phe382Ser
XM_006720493.2:c.1145T>C	XP_006720556.1:p.Phe382Ser
XM_006720494.2:c.1145T>C	XP_006720557.1:p.Phe382Ser
XM_006720495.2:c.969+878T>C	XP_006720558.1:n.969+878T>C
XM_006720495.3:c.969+878T>C	XP_006720558.1:n.969+878T>C
XM_011521523.1:c.1145T>C	XP_011519825.1:p.Phe382Ser
XM_017022149.1:c.1232T>C	XP_016877638.1:p.Phe411Ser
XM_017022150.1:c.1232T>C	XP_016877639.1:p.Phe411Ser
XM_017022153.1:c.1232T>C	XP_016877642.1:p.Phe411Ser
XM_017022154.2:c.1175T>C	XP_016877643.1:p.Phe392Ser
XM_017022155.2:c.1232T>C	XP_016877644.1:p.Phe411Ser
XM_017022157.1:c.1056+878T>C	XP_016877646.1:n.1056+878T>C
XR_001751263.1:n.1495T>C
XR_243097.3:n.1051T>C
XR_243098.2:n.1051T>C
XR_429453.2:n.1246T>C