Canonical Allele Identifier: CA1085301501
Gene:

Linked Data

dbSNP Id: rs1761315795
gnomAD v3: 6-1535644-C-T
gnomAD v4: 6-1535644-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1535644C>T , CM000668.2:g.1535644C>T GRCh38
NC_000006.11:g.1535879C>T , CM000668.1:g.1535879C>T GRCh37
NC_000006.10:g.1480878C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_427861.2:n.234+16702G>A
XR_926380.1:n.218-2812C>T
XR_926381.1:n.1108-2812C>T
XR_926382.1:n.235-6465G>A
XR_926384.1:n.200-6465G>A
XR_001743921.1:n.235-6489G>A
XR_427861.3:n.234+16702G>A
XR_926381.2:n.1123-2812C>T
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