Canonical Allele Identifier: CA391717090
Gene: IVD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40411296A>C , CM000677.2:g.40411296A>C GRCh38
NC_000015.9:g.40703495A>C , CM000677.1:g.40703495A>C GRCh37
NC_000015.8:g.38490787A>C NCBI36
NG_011986.1:g.10810A>C
NG_011986.2:g.10812A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000479013.7:c.403A>C ENSP00000417990.3:p.Ser135Arg
ENST00000487418.8:c.493A>C MANE Select ENSP00000418397.3:p.Ser165Arg
ENST00000610693.5:c.580A>C ENSP00000479359.2:p.Ser194Arg
ENST00000650656.1:c.412A>C ENSP00000498731.1:p.Ser138Arg
ENST00000651168.1:c.502A>C ENSP00000499074.1:p.Ser168Arg
ENST00000473112.6:c.252A>C
ENST00000479013.6:c.412A>C ENSP00000417990.2:p.Ser138Arg
ENST00000481262.6:c.99A>C
ENST00000484250.1:n.116A>C
ENST00000487418.6:c.502A>C ENSP00000418397.2:p.Ser168Arg
ENST00000558610.5:c.445A>C ENSP00000453821.1:p.Ser149Arg
ENST00000610693.4:c.589A>C ENSP00000479359.1:p.Ser197Arg
NM_001159508.1:c.412A>C NP_001152980.1:p.Ser138Arg
NM_002225.3:c.502A>C NP_002216.2:p.Ser168Arg
XM_005254350.2:c.502A>C XP_005254407.1:p.Ser168Arg
XM_005254356.2:c.502A>C XP_005254413.1:p.Ser168Arg
XM_006720491.2:c.445A>C XP_006720554.1:p.Ser149Arg
XM_006720492.2:c.502A>C XP_006720555.1:p.Ser168Arg
XM_006720493.2:c.502A>C XP_006720556.1:p.Ser168Arg
XM_006720494.2:c.502A>C XP_006720557.1:p.Ser168Arg
XM_006720495.2:c.502A>C XP_006720558.1:p.Ser168Arg
XM_011521523.1:c.502A>C XP_011519825.1:p.Ser168Arg
XM_011521524.1:c.502A>C XP_011519826.1:p.Ser168Arg
XR_243097.3:n.502A>C
XR_243098.2:n.502A>C
XR_429453.2:n.603A>C
NM_001159508.2:c.403A>C NP_001152980.2:p.Ser135Arg
NM_001354597.2:c.445A>C NP_001341526.1:p.Ser149Arg
NM_001354598.2:c.493A>C NP_001341527.2:p.Ser165Arg
NM_001354599.2:c.580A>C NP_001341528.2:p.Ser194Arg
NM_001354600.2:c.580A>C NP_001341529.2:p.Ser194Arg
NM_001354601.2:c.493A>C NP_001341530.2:p.Ser165Arg
NM_002225.4:c.493A>C NP_002216.3:p.Ser165Arg
NR_148925.1:n.903A>C
XM_006720495.3:c.502A>C XP_006720558.1:p.Ser168Arg
XM_017022149.1:c.589A>C XP_016877638.1:p.Ser197Arg
XM_017022150.1:c.589A>C XP_016877639.1:p.Ser197Arg
XM_017022153.1:c.589A>C XP_016877642.1:p.Ser197Arg
XM_017022154.2:c.532A>C XP_016877643.1:p.Ser178Arg
XM_017022155.2:c.589A>C XP_016877644.1:p.Ser197Arg
XM_017022157.1:c.589A>C XP_016877646.1:p.Ser197Arg
XM_017022158.2:c.589A>C XP_016877647.1:p.Ser197Arg
XR_001751263.1:n.852A>C
XR_001751264.1:n.893A>C
NM_001159508.3:c.403A>C NP_001152980.2:p.Ser135Arg
NM_001354597.3:c.445A>C NP_001341526.1:p.Ser149Arg
NM_001354598.3:c.493A>C NP_001341527.2:p.Ser165Arg
NM_001354599.3:c.580A>C NP_001341528.2:p.Ser194Arg
NM_001354600.3:c.580A>C NP_001341529.2:p.Ser194Arg
NM_001354601.3:c.493A>C NP_001341530.2:p.Ser165Arg
NM_002225.5:c.493A>C MANE Select NP_002216.3:p.Ser165Arg
NR_148925.2:n.905A>C