Canonical Allele Identifier: CA560269404

Gene:

Linked Data

• dbSNP Id: rs1415923232
• gnomAD v2: 5-69345344-T-C
• gnomAD v3: 5-70049517-T-C
• gnomAD v4: 5-70049517-T-C
• MyVariant Identifiers: chr5:g.69345344T>C (hg19) ; chr5:g.70049517T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70049517T>C , CM000667.2:g.70049517T>C	GRCh38
NC_000005.9:g.69345344T>C , CM000667.1:g.69345344T>C	GRCh37
NC_000005.8:g.69381100T>C	NCBI36
NG_008728.1:g.4995T>C

Transcript Alleles

HGVS	Amino-acid change
XR_948432.1:n.1054+61513T>C