Canonical Allele Identifier: CA129996944
Gene:

Linked Data

dbSNP Id: rs564946738
gnomAD v2: 5-151734114-G-A
gnomAD v3: 5-152354553-G-A
gnomAD v4: 5-152354553-G-A
MyVariant Identifiers: chr5:g.151734114G>A (hg19) chr5:g.152354553G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.152354553G>A , CM000667.2:g.152354553G>A GRCh38
NC_000005.9:g.151734114G>A , CM000667.1:g.151734114G>A GRCh37
NC_000005.8:g.151714307G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_944433.1:n.196+16690G>A
XR_944433.2:n.197+16690G>A
Search 100 bp 5'
Search 100 bp 3'