Canonical Allele Identifier: CA7066040
Gene: GRK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 522307
ClinVar RCV Id: RCV000625340 RCV001700422 RCV003965308
dbSNP Id: rs73579342
ExAC: 13:114321863 C / T
gnomAD v2: 13-114321863-C-T
gnomAD v3: 13-113667548-C-T
gnomAD v4: 13-113667548-C-T
MyVariant Identifiers: chr13:g.114321863C>T (hg19) chr13:g.113667548C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.113667548C>T , CM000675.2:g.113667548C>T GRCh38
NC_000013.10:g.114321863C>T , CM000675.1:g.114321863C>T GRCh37
NC_000013.9:g.113369864C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000335678.7:c.162C>T MANE Select ENSP00000334876.5:p.Leu54=
ENST00000335678.6:c.162C>T ENSP00000334876.5:p.Leu54=
NM_002929.2:c.162C>T NP_002920.1:p.Leu54=
XM_017020684.1:c.-6-2139C>T XP_016876173.1:n.-6-2139C>T
NM_002929.3:c.162C>T MANE Select NP_002920.1:p.Leu54=
Search 100 bp 5'
Search 100 bp 3'