Canonical Allele Identifier: CA489739834
Gene: IVD HGNC NCBI

Linked Data

dbSNP Id: rs1262154668

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40411268T>C , CM000677.2:g.40411268T>C GRCh38
NC_000015.9:g.40703467T>C , CM000677.1:g.40703467T>C GRCh37
NC_000015.8:g.38490759T>C NCBI36
NG_011986.1:g.10782T>C
NG_011986.2:g.10784T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000479013.7:c.375T>C ENSP00000417990.3:p.Ser125=
ENST00000487418.8:c.465T>C MANE Select ENSP00000418397.3:p.Ser155=
ENST00000610693.5:c.552T>C ENSP00000479359.2:p.Ser184=
ENST00000650656.1:c.384T>C ENSP00000498731.1:p.Ser128=
ENST00000651168.1:c.474T>C ENSP00000499074.1:p.Ser158=
ENST00000473112.6:c.224T>C
ENST00000479013.6:c.384T>C ENSP00000417990.2:p.Ser128=
ENST00000481262.6:c.71T>C
ENST00000484250.1:n.88T>C
ENST00000487418.6:c.474T>C ENSP00000418397.2:p.Ser158=
ENST00000558610.5:c.417T>C ENSP00000453821.1:p.Ser139=
ENST00000610693.4:c.561T>C ENSP00000479359.1:p.Ser187=
NM_001159508.1:c.384T>C NP_001152980.1:p.Ser128=
NM_002225.3:c.474T>C NP_002216.2:p.Ser158=
XM_005254350.2:c.474T>C XP_005254407.1:p.Ser158=
XM_005254356.2:c.474T>C XP_005254413.1:p.Ser158=
XM_006720491.2:c.417T>C XP_006720554.1:p.Ser139=
XM_006720492.2:c.474T>C XP_006720555.1:p.Ser158=
XM_006720493.2:c.474T>C XP_006720556.1:p.Ser158=
XM_006720494.2:c.474T>C XP_006720557.1:p.Ser158=
XM_006720495.2:c.474T>C XP_006720558.1:p.Ser158=
XM_011521523.1:c.474T>C XP_011519825.1:p.Ser158=
XM_011521524.1:c.474T>C XP_011519826.1:p.Ser158=
XR_243097.3:n.474T>C
XR_243098.2:n.474T>C
XR_429453.2:n.575T>C
NM_001159508.2:c.375T>C NP_001152980.2:p.Ser125=
NM_001354597.2:c.417T>C NP_001341526.1:p.Ser139=
NM_001354598.2:c.465T>C NP_001341527.2:p.Ser155=
NM_001354599.2:c.552T>C NP_001341528.2:p.Ser184=
NM_001354600.2:c.552T>C NP_001341529.2:p.Ser184=
NM_001354601.2:c.465T>C NP_001341530.2:p.Ser155=
NM_002225.4:c.465T>C NP_002216.3:p.Ser155=
NR_148925.1:n.875T>C
XM_006720495.3:c.474T>C XP_006720558.1:p.Ser158=
XM_017022149.1:c.561T>C XP_016877638.1:p.Ser187=
XM_017022150.1:c.561T>C XP_016877639.1:p.Ser187=
XM_017022153.1:c.561T>C XP_016877642.1:p.Ser187=
XM_017022154.2:c.504T>C XP_016877643.1:p.Ser168=
XM_017022155.2:c.561T>C XP_016877644.1:p.Ser187=
XM_017022157.1:c.561T>C XP_016877646.1:p.Ser187=
XM_017022158.2:c.561T>C XP_016877647.1:p.Ser187=
XR_001751263.1:n.824T>C
XR_001751264.1:n.865T>C
NM_001159508.3:c.375T>C NP_001152980.2:p.Ser125=
NM_001354597.3:c.417T>C NP_001341526.1:p.Ser139=
NM_001354598.3:c.465T>C NP_001341527.2:p.Ser155=
NM_001354599.3:c.552T>C NP_001341528.2:p.Ser184=
NM_001354600.3:c.552T>C NP_001341529.2:p.Ser184=
NM_001354601.3:c.465T>C NP_001341530.2:p.Ser155=
NM_002225.5:c.465T>C MANE Select NP_002216.3:p.Ser155=
NR_148925.2:n.877T>C