Canonical Allele Identifier: CA16271062
Gene:

Linked Data

dbSNP Id: rs17530068
gnomAD v2: 6-82193109-T-C
gnomAD v3: 6-81483392-T-C
gnomAD v4: 6-81483392-T-C
MyVariant Identifiers: chr6:g.82193109T>C (hg19) chr6:g.81483392T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.81483392T>C , CM000668.2:g.81483392T>C GRCh38
NC_000006.11:g.82193109T>C , CM000668.1:g.82193109T>C GRCh37
NC_000006.10:g.82249828T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001744218.1:n.1402+8099A>G
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