Canonical Allele Identifier: CA127232067

Gene:

Linked Data

• dbSNP Id: rs192588741
• gnomAD v2: 5-125338534-T-C
• gnomAD v3: 5-126002841-T-C
• gnomAD v4: 5-126002841-T-C
• MyVariant Identifiers: chr5:g.125338534T>C (hg19) ; chr5:g.126002841T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126002841T>C , CM000667.2:g.126002841T>C	GRCh38
NC_000005.9:g.125338534T>C , CM000667.1:g.125338534T>C	GRCh37
NC_000005.8:g.125366433T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_948737.1:n.565+3499A>G
XR_948738.1:n.497+5699A>G