Canonical Allele Identifier: CA391717002
Gene: IVD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40411276A>C , CM000677.2:g.40411276A>C GRCh38
NC_000015.9:g.40703475A>C , CM000677.1:g.40703475A>C GRCh37
NC_000015.8:g.38490767A>C NCBI36
NG_011986.1:g.10790A>C
NG_011986.2:g.10792A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000479013.7:c.383A>C ENSP00000417990.3:p.Tyr128Ser
ENST00000487418.8:c.473A>C MANE Select ENSP00000418397.3:p.Tyr158Ser
ENST00000610693.5:c.560A>C ENSP00000479359.2:p.Tyr187Ser
ENST00000650656.1:c.392A>C ENSP00000498731.1:p.Tyr131Ser
ENST00000651168.1:c.482A>C ENSP00000499074.1:p.Tyr161Ser
ENST00000473112.6:c.232A>C
ENST00000479013.6:c.392A>C ENSP00000417990.2:p.Tyr131Ser
ENST00000481262.6:c.79A>C
ENST00000484250.1:n.96A>C
ENST00000487418.6:c.482A>C ENSP00000418397.2:p.Tyr161Ser
ENST00000558610.5:c.425A>C ENSP00000453821.1:p.Tyr142Ser
ENST00000610693.4:c.569A>C ENSP00000479359.1:p.Tyr190Ser
NM_001159508.1:c.392A>C NP_001152980.1:p.Tyr131Ser
NM_002225.3:c.482A>C NP_002216.2:p.Tyr161Ser
XM_005254350.2:c.482A>C XP_005254407.1:p.Tyr161Ser
XM_005254356.2:c.482A>C XP_005254413.1:p.Tyr161Ser
XM_006720491.2:c.425A>C XP_006720554.1:p.Tyr142Ser
XM_006720492.2:c.482A>C XP_006720555.1:p.Tyr161Ser
XM_006720493.2:c.482A>C XP_006720556.1:p.Tyr161Ser
XM_006720494.2:c.482A>C XP_006720557.1:p.Tyr161Ser
XM_006720495.2:c.482A>C XP_006720558.1:p.Tyr161Ser
XM_011521523.1:c.482A>C XP_011519825.1:p.Tyr161Ser
XM_011521524.1:c.482A>C XP_011519826.1:p.Tyr161Ser
XR_243097.3:n.482A>C
XR_243098.2:n.482A>C
XR_429453.2:n.583A>C
NM_001159508.2:c.383A>C NP_001152980.2:p.Tyr128Ser
NM_001354597.2:c.425A>C NP_001341526.1:p.Tyr142Ser
NM_001354598.2:c.473A>C NP_001341527.2:p.Tyr158Ser
NM_001354599.2:c.560A>C NP_001341528.2:p.Tyr187Ser
NM_001354600.2:c.560A>C NP_001341529.2:p.Tyr187Ser
NM_001354601.2:c.473A>C NP_001341530.2:p.Tyr158Ser
NM_002225.4:c.473A>C NP_002216.3:p.Tyr158Ser
NR_148925.1:n.883A>C
XM_006720495.3:c.482A>C XP_006720558.1:p.Tyr161Ser
XM_017022149.1:c.569A>C XP_016877638.1:p.Tyr190Ser
XM_017022150.1:c.569A>C XP_016877639.1:p.Tyr190Ser
XM_017022153.1:c.569A>C XP_016877642.1:p.Tyr190Ser
XM_017022154.2:c.512A>C XP_016877643.1:p.Tyr171Ser
XM_017022155.2:c.569A>C XP_016877644.1:p.Tyr190Ser
XM_017022157.1:c.569A>C XP_016877646.1:p.Tyr190Ser
XM_017022158.2:c.569A>C XP_016877647.1:p.Tyr190Ser
XR_001751263.1:n.832A>C
XR_001751264.1:n.873A>C
NM_001159508.3:c.383A>C NP_001152980.2:p.Tyr128Ser
NM_001354597.3:c.425A>C NP_001341526.1:p.Tyr142Ser
NM_001354598.3:c.473A>C NP_001341527.2:p.Tyr158Ser
NM_001354599.3:c.560A>C NP_001341528.2:p.Tyr187Ser
NM_001354600.3:c.560A>C NP_001341529.2:p.Tyr187Ser
NM_001354601.3:c.473A>C NP_001341530.2:p.Tyr158Ser
NM_002225.5:c.473A>C MANE Select NP_002216.3:p.Tyr158Ser
NR_148925.2:n.885A>C