Canonical Allele Identifier: CA560269407

Gene:

Linked Data

• dbSNP Id: rs1156675575
• gnomAD v2: 5-69345346-C-G
• gnomAD v3: 5-70049519-C-G
• gnomAD v4: 5-70049519-C-G
• MyVariant Identifiers: chr5:g.69345346C>G (hg19) ; chr5:g.70049519C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70049519C>G , CM000667.2:g.70049519C>G	GRCh38
NC_000005.9:g.69345346C>G , CM000667.1:g.69345346C>G	GRCh37
NC_000005.8:g.69381102C>G	NCBI36
NG_008728.1:g.4997C>G

Transcript Alleles

HGVS	Amino-acid Change
XR_948432.1:n.1054+61515C>G