Canonical Allele Identifier: CA7480641
Gene: IVD HGNC NCBI

Linked Data

dbSNP Id: rs759264185

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40411257C>G , CM000677.2:g.40411257C>G GRCh38
NC_000015.9:g.40703456C>G , CM000677.1:g.40703456C>G GRCh37
NC_000015.8:g.38490748C>G NCBI36
NG_011986.1:g.10771C>G
NG_011986.2:g.10773C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000479013.7:c.367-3C>G ENSP00000417990.3:n.367-3C>G
ENST00000487418.8:c.457-3C>G MANE Select ENSP00000418397.3:n.457-3C>G
ENST00000610693.5:c.544-3C>G ENSP00000479359.2:n.544-3C>G
ENST00000650656.1:c.376-3C>G ENSP00000498731.1:n.376-3C>G
ENST00000651168.1:c.466-3C>G ENSP00000499074.1:n.466-3C>G
ENST00000473112.6:c.216-3C>G
ENST00000479013.6:c.376-3C>G ENSP00000417990.2:n.376-3C>G
ENST00000481262.6:c.63-3C>G
ENST00000484250.1:n.80-3C>G
ENST00000487418.6:c.466-3C>G ENSP00000418397.2:n.466-3C>G
ENST00000558610.5:c.409-3C>G ENSP00000453821.1:n.409-3C>G
ENST00000610693.4:c.553-3C>G ENSP00000479359.1:n.553-3C>G
NM_001159508.1:c.376-3C>G NP_001152980.1:n.376-3C>G
NM_002225.3:c.466-3C>G NP_002216.2:n.466-3C>G
XM_005254350.2:c.466-3C>G XP_005254407.1:n.466-3C>G
XM_005254356.2:c.466-3C>G XP_005254413.1:n.466-3C>G
XM_006720491.2:c.409-3C>G XP_006720554.1:n.409-3C>G
XM_006720492.2:c.466-3C>G XP_006720555.1:n.466-3C>G
XM_006720493.2:c.466-3C>G XP_006720556.1:n.466-3C>G
XM_006720494.2:c.466-3C>G XP_006720557.1:n.466-3C>G
XM_006720495.2:c.466-3C>G XP_006720558.1:n.466-3C>G
XM_011521523.1:c.466-3C>G XP_011519825.1:n.466-3C>G
XM_011521524.1:c.466-3C>G XP_011519826.1:n.466-3C>G
XR_243097.3:n.466-3C>G
XR_243098.2:n.466-3C>G
XR_429453.2:n.567-3C>G
NM_001159508.2:c.367-3C>G NP_001152980.2:n.367-3C>G
NM_001354597.2:c.409-3C>G NP_001341526.1:n.409-3C>G
NM_001354598.2:c.457-3C>G NP_001341527.2:n.457-3C>G
NM_001354599.2:c.544-3C>G NP_001341528.2:n.544-3C>G
NM_001354600.2:c.544-3C>G NP_001341529.2:n.544-3C>G
NM_001354601.2:c.457-3C>G NP_001341530.2:n.457-3C>G
NM_002225.4:c.457-3C>G NP_002216.3:n.457-3C>G
NR_148925.1:n.867-3C>G
XM_006720495.3:c.466-3C>G XP_006720558.1:n.466-3C>G
XM_017022149.1:c.553-3C>G XP_016877638.1:n.553-3C>G
XM_017022150.1:c.553-3C>G XP_016877639.1:n.553-3C>G
XM_017022153.1:c.553-3C>G XP_016877642.1:n.553-3C>G
XM_017022154.2:c.496-3C>G XP_016877643.1:n.496-3C>G
XM_017022155.2:c.553-3C>G XP_016877644.1:n.553-3C>G
XM_017022157.1:c.553-3C>G XP_016877646.1:n.553-3C>G
XM_017022158.2:c.553-3C>G XP_016877647.1:n.553-3C>G
XR_001751263.1:n.816-3C>G
XR_001751264.1:n.857-3C>G
NM_001159508.3:c.367-3C>G NP_001152980.2:n.367-3C>G
NM_001354597.3:c.409-3C>G NP_001341526.1:n.409-3C>G
NM_001354598.3:c.457-3C>G NP_001341527.2:n.457-3C>G
NM_001354599.3:c.544-3C>G NP_001341528.2:n.544-3C>G
NM_001354600.3:c.544-3C>G NP_001341529.2:n.544-3C>G
NM_001354601.3:c.457-3C>G NP_001341530.2:n.457-3C>G
NM_002225.5:c.457-3C>G MANE Select NP_002216.3:n.457-3C>G
NR_148925.2:n.869-3C>G