Canonical Allele Identifier: CA803406382
Gene:

Linked Data

dbSNP Id: rs1373163202
gnomAD v3: 5-126002783-A-G
gnomAD v4: 5-126002783-A-G
MyVariant Identifiers: chr5:g.125338476A>G (hg19) chr5:g.126002783A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.126002783A>G , CM000667.2:g.126002783A>G GRCh38
NC_000005.9:g.125338476A>G , CM000667.1:g.125338476A>G GRCh37
NC_000005.8:g.125366375A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_948737.1:n.565+3557T>C
XR_948738.1:n.497+5757T>C
Search 100 bp 5'
Search 100 bp 3'