Canonical Allele Identifier: CA561580481
Gene:

Linked Data

dbSNP Id: rs13188771
gnomAD v2: 5-100948545-C-G
gnomAD v3: 5-101612841-C-G
gnomAD v4: 5-101612841-C-G
MyVariant Identifiers: chr5:g.100948545C>G (hg19) chr5:g.101612841C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.101612841C>G , CM000667.2:g.101612841C>G GRCh38
NC_000005.9:g.100948545C>G , CM000667.1:g.100948545C>G GRCh37
NC_000005.8:g.100976444C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948628.1:n.250+18293G>C
XR_001742829.1:n.1095+18293G>C
XR_948628.2:n.464+18293G>C
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