Canonical Allele Identifier: CA1755308
Gene: RPIA HGNC NCBI

Linked Data

ClinVar Variation Id: 337434
ClinVar RCV Id: RCV000325957 RCV002523147
dbSNP Id: rs752477415
ExAC: 2:89036161 G / A
gnomAD v2: 2-89036161-G-A
gnomAD v3: 2-88736644-G-A
gnomAD v4: 2-88736644-G-A
MyVariant Identifiers: chr2:g.89036161G>A (hg19) chr2:g.88736644G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88736644G>A , CM000664.2:g.88736644G>A GRCh38
NC_000002.11:g.89036161G>A , CM000664.1:g.89036161G>A GRCh37
NC_000002.10:g.88817276G>A NCBI36
NG_016710.1:g.49986G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000283646.5:c.706G>A MANE Select ENSP00000283646.3:p.Val236Met
ENST00000283646.4:c.706G>A ENSP00000283646.3:p.Val236Met
NM_144563.2:c.706G>A NP_653164.2:p.Val236Met
NM_144563.3:c.706G>A MANE Select NP_653164.2:p.Val236Met
Search 100 bp 5'
Search 100 bp 3'