Canonical Allele Identifier: CA7480542
Gene: IVD HGNC NCBI

Linked Data

ClinVar Variation Id: 386915
dbSNP Id: rs750473075

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40407741C>T , CM000677.2:g.40407741C>T GRCh38
NC_000015.9:g.40699942C>T , CM000677.1:g.40699942C>T GRCh37
NC_000015.8:g.38487234C>T NCBI36
NG_011986.1:g.7257C>T
NG_011986.2:g.7257C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000479013.7:c.145-198C>T ENSP00000417990.3:n.145-198C>T
ENST00000487418.8:c.234+16C>T MANE Select ENSP00000418397.3:n.234+16C>T
ENST00000610693.5:c.250C>T ENSP00000479359.2:p.Arg84Trp
ENST00000650656.1:c.154-198C>T ENSP00000498731.1:n.154-198C>T
ENST00000651168.1:c.243+16C>T ENSP00000499074.1:n.243+16C>T
ENST00000479013.6:c.154-198C>T ENSP00000417990.2:n.154-198C>T
ENST00000487418.6:c.243+16C>T ENSP00000418397.2:n.243+16C>T
ENST00000558610.5:c.186+16C>T ENSP00000453821.1:n.186+16C>T
ENST00000610693.4:c.259C>T ENSP00000479359.1:p.Arg87Trp
NM_001159508.1:c.154-198C>T NP_001152980.1:n.154-198C>T
NM_002225.3:c.243+16C>T NP_002216.2:n.243+16C>T
XM_005254350.2:c.243+16C>T XP_005254407.1:n.243+16C>T
XM_005254356.2:c.243+16C>T XP_005254413.1:n.243+16C>T
XM_006720491.2:c.186+16C>T XP_006720554.1:n.186+16C>T
XM_006720492.2:c.243+16C>T XP_006720555.1:n.243+16C>T
XM_006720493.2:c.243+16C>T XP_006720556.1:n.243+16C>T
XM_006720494.2:c.243+16C>T XP_006720557.1:n.243+16C>T
XM_006720495.2:c.243+16C>T XP_006720558.1:n.243+16C>T
XM_011521523.1:c.243+16C>T XP_011519825.1:n.243+16C>T
XM_011521524.1:c.243+16C>T XP_011519826.1:n.243+16C>T
XR_243097.3:n.243+16C>T
XR_243098.2:n.243+16C>T
XR_429453.2:n.344+16C>T
NM_001159508.2:c.145-198C>T NP_001152980.2:n.145-198C>T
NM_001354597.2:c.186+16C>T NP_001341526.1:n.186+16C>T
NM_001354598.2:c.234+16C>T NP_001341527.2:n.234+16C>T
NM_001354599.2:c.250C>T NP_001341528.2:p.Arg84Trp
NM_001354600.2:c.250C>T NP_001341529.2:p.Arg84Trp
NM_001354601.2:c.234+16C>T NP_001341530.2:n.234+16C>T
NM_002225.4:c.234+16C>T NP_002216.3:n.234+16C>T
NR_148925.1:n.644+16C>T
XM_006720495.3:c.243+16C>T XP_006720558.1:n.243+16C>T
XM_017022149.1:c.259C>T XP_016877638.1:p.Arg87Trp
XM_017022150.1:c.259C>T XP_016877639.1:p.Arg87Trp
XM_017022153.1:c.259C>T XP_016877642.1:p.Arg87Trp
XM_017022154.2:c.202C>T XP_016877643.1:p.Arg68Trp
XM_017022155.2:c.259C>T XP_016877644.1:p.Arg87Trp
XM_017022157.1:c.259C>T XP_016877646.1:p.Arg87Trp
XM_017022158.2:c.259C>T XP_016877647.1:p.Arg87Trp
XR_001751263.1:n.593+16C>T
XR_001751264.1:n.634+16C>T
NM_001159508.3:c.145-198C>T NP_001152980.2:n.145-198C>T
NM_001354597.3:c.186+16C>T NP_001341526.1:n.186+16C>T
NM_001354598.3:c.234+16C>T NP_001341527.2:n.234+16C>T
NM_001354599.3:c.250C>T NP_001341528.2:p.Arg84Trp
NM_001354600.3:c.250C>T NP_001341529.2:p.Arg84Trp
NM_001354601.3:c.234+16C>T NP_001341530.2:n.234+16C>T
NM_002225.5:c.234+16C>T MANE Select NP_002216.3:n.234+16C>T
NR_148925.2:n.646+16C>T