Canonical Allele Identifier: CA391717583
Gene: IVD HGNC NCBI

Linked Data

dbSNP Id: rs1180695282

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40411593A>G , CM000677.2:g.40411593A>G GRCh38
NC_000015.9:g.40703792A>G , CM000677.1:g.40703792A>G GRCh37
NC_000015.8:g.38491084A>G NCBI36
NG_011986.1:g.11107A>G
NG_011986.2:g.11109A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000479013.7:c.499A>G ENSP00000417990.3:p.Thr167Ala
ENST00000487418.8:c.589A>G MANE Select ENSP00000418397.3:p.Thr197Ala
ENST00000650656.1:c.508A>G ENSP00000498731.1:p.Thr170Ala
ENST00000651168.1:c.598A>G ENSP00000499074.1:p.Thr200Ala
ENST00000473112.6:c.348A>G
ENST00000479013.6:c.508A>G ENSP00000417990.2:p.Thr170Ala
ENST00000481262.6:c.195A>G
ENST00000484250.1:n.212A>G
ENST00000487418.6:c.598A>G ENSP00000418397.2:p.Thr200Ala
ENST00000558610.5:c.541A>G ENSP00000453821.1:p.Thr181Ala
NM_001159508.1:c.508A>G NP_001152980.1:p.Thr170Ala
NM_002225.3:c.598A>G NP_002216.2:p.Thr200Ala
XM_005254350.2:c.598A>G XP_005254407.1:p.Thr200Ala
XM_005254356.2:c.598A>G XP_005254413.1:p.Thr200Ala
XM_006720491.2:c.541A>G XP_006720554.1:p.Thr181Ala
XM_006720492.2:c.598A>G XP_006720555.1:p.Thr200Ala
XM_006720493.2:c.598A>G XP_006720556.1:p.Thr200Ala
XM_006720494.2:c.598A>G XP_006720557.1:p.Thr200Ala
XM_006720495.2:c.598A>G XP_006720558.1:p.Thr200Ala
XM_011521523.1:c.598A>G XP_011519825.1:p.Thr200Ala
XM_011521524.1:c.598A>G XP_011519826.1:p.Thr200Ala
XR_243097.3:n.598A>G
XR_243098.2:n.598A>G
XR_429453.2:n.699A>G
NM_001159508.2:c.499A>G NP_001152980.2:p.Thr167Ala
NM_001354597.2:c.541A>G NP_001341526.1:p.Thr181Ala
NM_001354598.2:c.589A>G NP_001341527.2:p.Thr197Ala
NM_001354599.2:c.676A>G NP_001341528.2:p.Thr226Ala
NM_001354600.2:c.676A>G NP_001341529.2:p.Thr226Ala
NM_001354601.2:c.589A>G NP_001341530.2:p.Thr197Ala
NM_002225.4:c.589A>G NP_002216.3:p.Thr197Ala
NR_148925.1:n.999A>G
XM_006720495.3:c.598A>G XP_006720558.1:p.Thr200Ala
XM_017022149.1:c.685A>G XP_016877638.1:p.Thr229Ala
XM_017022150.1:c.685A>G XP_016877639.1:p.Thr229Ala
XM_017022153.1:c.685A>G XP_016877642.1:p.Thr229Ala
XM_017022154.2:c.628A>G XP_016877643.1:p.Thr210Ala
XM_017022155.2:c.685A>G XP_016877644.1:p.Thr229Ala
XM_017022157.1:c.685A>G XP_016877646.1:p.Thr229Ala
XM_017022158.2:c.685A>G XP_016877647.1:p.Thr229Ala
XR_001751263.1:n.948A>G
XR_001751264.1:n.989A>G
NM_001159508.3:c.499A>G NP_001152980.2:p.Thr167Ala
NM_001354597.3:c.541A>G NP_001341526.1:p.Thr181Ala
NM_001354598.3:c.589A>G NP_001341527.2:p.Thr197Ala
NM_001354599.3:c.676A>G NP_001341528.2:p.Thr226Ala
NM_001354600.3:c.676A>G NP_001341529.2:p.Thr226Ala
NM_001354601.3:c.589A>G NP_001341530.2:p.Thr197Ala
NM_002225.5:c.589A>G MANE Select NP_002216.3:p.Thr197Ala
NR_148925.2:n.1001A>G