Canonical Allele Identifier: CA12078582
Gene:
MyVariant.info:
GRCh38 chr5:g.6879865T>C
GRCh37 chr5:g.6879978T>C
gnomAD v2:
5:6879978 T / C
gnomAD v3:
5:6879865 T / C
gnomAD v4:
chr5-6879865-T-C
Joint Max Group AF 0.6263649 (NFE)
Genomes Max Group AF 0.6263649 (NFE)
dbSNP:
275437
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.6879865T>C , CM000667.2:g.6879865T>C GRCh38
NC_000005.9:g.6879978T>C , CM000667.1:g.6879978T>C GRCh37
NC_000005.8:g.6932978T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_925741.1:n.117-6561T>C
XR_001742496.1:n.285-6561T>C
XR_925741.2:n.151-6561T>C
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