Canonical Allele Identifier: CA391716961
Gene: IVD HGNC NCBI

Linked Data

dbSNP Id: rs140182461

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40411267G>T , CM000677.2:g.40411267G>T GRCh38
NC_000015.9:g.40703466G>T , CM000677.1:g.40703466G>T GRCh37
NC_000015.8:g.38490758G>T NCBI36
NG_011986.1:g.10781G>T
NG_011986.2:g.10783G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000479013.7:c.374G>T ENSP00000417990.3:p.Ser125Ile
ENST00000487418.8:c.464G>T MANE Select ENSP00000418397.3:p.Ser155Ile
ENST00000610693.5:c.551G>T ENSP00000479359.2:p.Ser184Ile
ENST00000650656.1:c.383G>T ENSP00000498731.1:p.Ser128Ile
ENST00000651168.1:c.473G>T ENSP00000499074.1:p.Ser158Ile
ENST00000473112.6:c.223G>T
ENST00000479013.6:c.383G>T ENSP00000417990.2:p.Ser128Ile
ENST00000481262.6:c.70G>T
ENST00000484250.1:n.87G>T
ENST00000487418.6:c.473G>T ENSP00000418397.2:p.Ser158Ile
ENST00000558610.5:c.416G>T ENSP00000453821.1:p.Ser139Ile
ENST00000610693.4:c.560G>T ENSP00000479359.1:p.Ser187Ile
NM_001159508.1:c.383G>T NP_001152980.1:p.Ser128Ile
NM_002225.3:c.473G>T NP_002216.2:p.Ser158Ile
XM_005254350.2:c.473G>T XP_005254407.1:p.Ser158Ile
XM_005254356.2:c.473G>T XP_005254413.1:p.Ser158Ile
XM_006720491.2:c.416G>T XP_006720554.1:p.Ser139Ile
XM_006720492.2:c.473G>T XP_006720555.1:p.Ser158Ile
XM_006720493.2:c.473G>T XP_006720556.1:p.Ser158Ile
XM_006720494.2:c.473G>T XP_006720557.1:p.Ser158Ile
XM_006720495.2:c.473G>T XP_006720558.1:p.Ser158Ile
XM_011521523.1:c.473G>T XP_011519825.1:p.Ser158Ile
XM_011521524.1:c.473G>T XP_011519826.1:p.Ser158Ile
XR_243097.3:n.473G>T
XR_243098.2:n.473G>T
XR_429453.2:n.574G>T
NM_001159508.2:c.374G>T NP_001152980.2:p.Ser125Ile
NM_001354597.2:c.416G>T NP_001341526.1:p.Ser139Ile
NM_001354598.2:c.464G>T NP_001341527.2:p.Ser155Ile
NM_001354599.2:c.551G>T NP_001341528.2:p.Ser184Ile
NM_001354600.2:c.551G>T NP_001341529.2:p.Ser184Ile
NM_001354601.2:c.464G>T NP_001341530.2:p.Ser155Ile
NM_002225.4:c.464G>T NP_002216.3:p.Ser155Ile
NR_148925.1:n.874G>T
XM_006720495.3:c.473G>T XP_006720558.1:p.Ser158Ile
XM_017022149.1:c.560G>T XP_016877638.1:p.Ser187Ile
XM_017022150.1:c.560G>T XP_016877639.1:p.Ser187Ile
XM_017022153.1:c.560G>T XP_016877642.1:p.Ser187Ile
XM_017022154.2:c.503G>T XP_016877643.1:p.Ser168Ile
XM_017022155.2:c.560G>T XP_016877644.1:p.Ser187Ile
XM_017022157.1:c.560G>T XP_016877646.1:p.Ser187Ile
XM_017022158.2:c.560G>T XP_016877647.1:p.Ser187Ile
XR_001751263.1:n.823G>T
XR_001751264.1:n.864G>T
NM_001159508.3:c.374G>T NP_001152980.2:p.Ser125Ile
NM_001354597.3:c.416G>T NP_001341526.1:p.Ser139Ile
NM_001354598.3:c.464G>T NP_001341527.2:p.Ser155Ile
NM_001354599.3:c.551G>T NP_001341528.2:p.Ser184Ile
NM_001354600.3:c.551G>T NP_001341529.2:p.Ser184Ile
NM_001354601.3:c.464G>T NP_001341530.2:p.Ser155Ile
NM_002225.5:c.464G>T MANE Select NP_002216.3:p.Ser155Ile
NR_148925.2:n.876G>T