Canonical Allele Identifier: CA182149
Gene: GIPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 178346
ClinVar RCV Id: RCV000155090 RCV001569955
dbSNP Id: rs185551765
ExAC: 19:3585831 C / T
gnomAD v2: 19-3585831-C-T
gnomAD v3: 19-3585833-C-T
gnomAD v4: 19-3585833-C-T
MyVariant Identifiers: chr19:g.3585831C>T (hg19) chr19:g.3585833C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3585833C>T , CM000681.2:g.3585833C>T GRCh38
NC_000019.9:g.3585831C>T , CM000681.1:g.3585831C>T GRCh37
NC_000019.8:g.3536831C>T NCBI36
NG_031943.1:g.5263C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644452.3:c.225+11C>T MANE Select ENSP00000493901.2:n.225+11C>T
ENST00000644946.1:c.225+11C>T ENSP00000495068.1:n.225+11C>T
ENST00000322315.5:c.225+11C>T ENSP00000319254.5:n.225+11C>T
NM_133261.2:c.225+11C>T NP_573568.1:n.225+11C>T
XM_005259492.2:c.225+11C>T XP_005259549.1:n.225+11C>T
XM_005259492.3:c.225+11C>T XP_005259549.1:n.225+11C>T
NM_133261.3:c.225+11C>T MANE Select NP_573568.1:n.225+11C>T
Search 100 bp 5'
Search 100 bp 3'