Canonical Allele Identifier: CA129996984

Gene:

Linked Data

• dbSNP Id: rs146189571
• gnomAD v2: 5-151734141-T-G
• gnomAD v3: 5-152354580-T-G
• gnomAD v4: 5-152354580-T-G
• MyVariant Identifiers: chr5:g.151734141T>G (hg19) ; chr5:g.152354580T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.152354580T>G , CM000667.2:g.152354580T>G	GRCh38
NC_000005.9:g.151734141T>G , CM000667.1:g.151734141T>G	GRCh37
NC_000005.8:g.151714334T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_944433.1:n.196+16717T>G
XR_944433.2:n.197+16717T>G