Canonical Allele Identifier: CA9550624
Gene: GRIN2D HGNC NCBI

Linked Data

ClinVar Variation Id: 1636880
ClinVar RCV Id: RCV002128697 RCV003916299
dbSNP Id: rs369769435
ExAC: 19:48922885 G / T
gnomAD v2: 19-48922885-G-T
gnomAD v3: 19-48419628-G-T
gnomAD v4: 19-48419628-G-T
MyVariant Identifiers: chr19:g.48922885G>T (hg19) chr19:g.48419628G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48419628G>T , CM000681.2:g.48419628G>T GRCh38
NC_000019.9:g.48922885G>T , CM000681.1:g.48922885G>T GRCh37
NC_000019.8:g.53614697G>T NCBI36
NG_052829.1:g.29754G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263269.4:c.1905G>T MANE Select ENSP00000263269.2:p.Leu635=
ENST00000263269.3:c.1905G>T ENSP00000263269.2:p.Leu635=
NM_000836.2:c.1905G>T NP_000827.2:p.Leu635=
XM_011526872.1:c.1905G>T XP_011525174.1:p.Leu635=
NM_000836.4:c.1905G>T MANE Select NP_000827.2:p.Leu635=
Search 100 bp 5'
Search 100 bp 3'