Canonical Allele Identifier: CA391746022
Gene: IVD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40407979T>G , CM000677.2:g.40407979T>G GRCh38
NC_000015.9:g.40700178T>G , CM000677.1:g.40700178T>G GRCh37
NC_000015.8:g.38487470T>G NCBI36
NG_011986.1:g.7493T>G
NG_011986.2:g.7495T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000479013.7:c.185T>G ENSP00000417990.3:p.Ile62Ser
ENST00000487418.8:c.275T>G MANE Select ENSP00000418397.3:p.Ile92Ser
ENST00000610693.5:c.362T>G ENSP00000479359.2:p.Ile121Ser
ENST00000650656.1:c.194T>G ENSP00000498731.1:p.Ile65Ser
ENST00000651168.1:c.284T>G ENSP00000499074.1:p.Ile95Ser
ENST00000473112.6:c.34T>G
ENST00000479013.6:c.194T>G ENSP00000417990.2:p.Ile65Ser
ENST00000487418.6:c.284T>G ENSP00000418397.2:p.Ile95Ser
ENST00000558610.5:c.227T>G ENSP00000453821.1:p.Ile76Ser
ENST00000610693.4:c.371T>G ENSP00000479359.1:p.Ile124Ser
NM_001159508.1:c.194T>G NP_001152980.1:p.Ile65Ser
NM_002225.3:c.284T>G NP_002216.2:p.Ile95Ser
XM_005254350.2:c.284T>G XP_005254407.1:p.Ile95Ser
XM_005254356.2:c.284T>G XP_005254413.1:p.Ile95Ser
XM_006720491.2:c.227T>G XP_006720554.1:p.Ile76Ser
XM_006720492.2:c.284T>G XP_006720555.1:p.Ile95Ser
XM_006720493.2:c.284T>G XP_006720556.1:p.Ile95Ser
XM_006720494.2:c.284T>G XP_006720557.1:p.Ile95Ser
XM_006720495.2:c.284T>G XP_006720558.1:p.Ile95Ser
XM_011521523.1:c.284T>G XP_011519825.1:p.Ile95Ser
XM_011521524.1:c.284T>G XP_011519826.1:p.Ile95Ser
XR_243097.3:n.284T>G
XR_243098.2:n.284T>G
XR_429453.2:n.385T>G
NM_001159508.2:c.185T>G NP_001152980.2:p.Ile62Ser
NM_001354597.2:c.227T>G NP_001341526.1:p.Ile76Ser
NM_001354598.2:c.275T>G NP_001341527.2:p.Ile92Ser
NM_001354599.2:c.362T>G NP_001341528.2:p.Ile121Ser
NM_001354600.2:c.362T>G NP_001341529.2:p.Ile121Ser
NM_001354601.2:c.275T>G NP_001341530.2:p.Ile92Ser
NM_002225.4:c.275T>G NP_002216.3:p.Ile92Ser
NR_148925.1:n.685T>G
XM_006720495.3:c.284T>G XP_006720558.1:p.Ile95Ser
XM_017022149.1:c.371T>G XP_016877638.1:p.Ile124Ser
XM_017022150.1:c.371T>G XP_016877639.1:p.Ile124Ser
XM_017022153.1:c.371T>G XP_016877642.1:p.Ile124Ser
XM_017022154.2:c.314T>G XP_016877643.1:p.Ile105Ser
XM_017022155.2:c.371T>G XP_016877644.1:p.Ile124Ser
XM_017022157.1:c.371T>G XP_016877646.1:p.Ile124Ser
XM_017022158.2:c.371T>G XP_016877647.1:p.Ile124Ser
XR_001751263.1:n.634T>G
XR_001751264.1:n.675T>G
NM_001159508.3:c.185T>G NP_001152980.2:p.Ile62Ser
NM_001354597.3:c.227T>G NP_001341526.1:p.Ile76Ser
NM_001354598.3:c.275T>G NP_001341527.2:p.Ile92Ser
NM_001354599.3:c.362T>G NP_001341528.2:p.Ile121Ser
NM_001354600.3:c.362T>G NP_001341529.2:p.Ile121Ser
NM_001354601.3:c.275T>G NP_001341530.2:p.Ile92Ser
NM_002225.5:c.275T>G MANE Select NP_002216.3:p.Ile92Ser
NR_148925.2:n.687T>G