Canonical Allele Identifier: CA74805228
Gene:

Linked Data

dbSNP Id: rs541851246
gnomAD v2: 3-53090899-A-G
gnomAD v3: 3-53056883-A-G
gnomAD v4: 3-53056883-A-G
MyVariant Identifiers: chr3:g.53090899A>G (hg19) chr3:g.53056883A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53056883A>G , CM000665.2:g.53056883A>G GRCh38
NC_000003.11:g.53090899A>G , CM000665.1:g.53090899A>G GRCh37
NC_000003.10:g.53065939A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000607203.1:c.318-9644T>C
ENST00000607283.5:c.465-13629T>C
ENST00000607495.5:c.447+20805T>C
Search 100 bp 5'
Search 100 bp 3'