Canonical Allele Identifier: CA391717747
Gene: IVD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40411628T>G , CM000677.2:g.40411628T>G GRCh38
NC_000015.9:g.40703827T>G , CM000677.1:g.40703827T>G GRCh37
NC_000015.8:g.38491119T>G NCBI36
NG_011986.1:g.11142T>G
NG_011986.2:g.11144T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000479013.7:c.534T>G ENSP00000417990.3:p.Tyr178Ter
ENST00000487418.8:c.624T>G MANE Select ENSP00000418397.3:p.Tyr208Ter
ENST00000650656.1:c.543T>G ENSP00000498731.1:p.Tyr181Ter
ENST00000651168.1:c.633T>G ENSP00000499074.1:p.Tyr211Ter
ENST00000473112.6:c.383T>G
ENST00000479013.6:c.543T>G ENSP00000417990.2:p.Tyr181Ter
ENST00000481262.6:c.230T>G
ENST00000484250.1:n.247T>G
ENST00000487418.6:c.633T>G ENSP00000418397.2:p.Tyr211Ter
ENST00000491554.6:c.21T>G ENSP00000453146.1:p.Tyr7Ter
ENST00000558610.5:c.576T>G ENSP00000453821.1:p.Tyr192Ter
NM_001159508.1:c.543T>G NP_001152980.1:p.Tyr181Ter
NM_002225.3:c.633T>G NP_002216.2:p.Tyr211Ter
XM_005254350.2:c.633T>G XP_005254407.1:p.Tyr211Ter
XM_005254356.2:c.633T>G XP_005254413.1:p.Tyr211Ter
XM_006720491.2:c.576T>G XP_006720554.1:p.Tyr192Ter
XM_006720492.2:c.633T>G XP_006720555.1:p.Tyr211Ter
XM_006720493.2:c.633T>G XP_006720556.1:p.Tyr211Ter
XM_006720494.2:c.633T>G XP_006720557.1:p.Tyr211Ter
XM_006720495.2:c.633T>G XP_006720558.1:p.Tyr211Ter
XM_011521523.1:c.633T>G XP_011519825.1:p.Tyr211Ter
XM_011521524.1:c.633T>G XP_011519826.1:p.Tyr211Ter
XR_243097.3:n.633T>G
XR_243098.2:n.633T>G
XR_429453.2:n.734T>G
NM_001159508.2:c.534T>G NP_001152980.2:p.Tyr178Ter
NM_001354597.2:c.576T>G NP_001341526.1:p.Tyr192Ter
NM_001354598.2:c.624T>G NP_001341527.2:p.Tyr208Ter
NM_001354599.2:c.711T>G NP_001341528.2:p.Tyr237Ter
NM_001354600.2:c.711T>G NP_001341529.2:p.Tyr237Ter
NM_001354601.2:c.624T>G NP_001341530.2:p.Tyr208Ter
NM_002225.4:c.624T>G NP_002216.3:p.Tyr208Ter
NR_148925.1:n.1034T>G
XM_006720495.3:c.633T>G XP_006720558.1:p.Tyr211Ter
XM_017022149.1:c.720T>G XP_016877638.1:p.Tyr240Ter
XM_017022150.1:c.720T>G XP_016877639.1:p.Tyr240Ter
XM_017022153.1:c.720T>G XP_016877642.1:p.Tyr240Ter
XM_017022154.2:c.663T>G XP_016877643.1:p.Tyr221Ter
XM_017022155.2:c.720T>G XP_016877644.1:p.Tyr240Ter
XM_017022157.1:c.720T>G XP_016877646.1:p.Tyr240Ter
XM_017022158.2:c.720T>G XP_016877647.1:p.Tyr240Ter
XR_001751263.1:n.983T>G
XR_001751264.1:n.1024T>G
NM_001159508.3:c.534T>G NP_001152980.2:p.Tyr178Ter
NM_001354597.3:c.576T>G NP_001341526.1:p.Tyr192Ter
NM_001354598.3:c.624T>G NP_001341527.2:p.Tyr208Ter
NM_001354599.3:c.711T>G NP_001341528.2:p.Tyr237Ter
NM_001354600.3:c.711T>G NP_001341529.2:p.Tyr237Ter
NM_001354601.3:c.624T>G NP_001341530.2:p.Tyr208Ter
NM_002225.5:c.624T>G MANE Select NP_002216.3:p.Tyr208Ter
NR_148925.2:n.1036T>G