Canonical Allele Identifier: CA1110104637
Gene:

Linked Data

dbSNP Id: rs1798572670
gnomAD v3: 8-5907152-C-T
gnomAD v4: 8-5907152-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.5907152C>T , CM000670.2:g.5907152C>T GRCh38
NC_000008.10:g.5764674C>T , CM000670.1:g.5764674C>T GRCh37
NC_000008.9:g.5752082C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_941374.1:n.308-7421G>A
XR_941375.1:n.308-7421G>A
XR_941376.1:n.406-7421G>A
XR_941377.1:n.308-7421G>A
XR_941378.1:n.216-7421G>A
XR_001745765.1:n.308-7421G>A
XR_001745766.1:n.406-7421G>A
XR_001745767.1:n.216-7421G>A
XR_001745768.1:n.308-7421G>A
XR_941374.2:n.308-7421G>A
XR_941375.2:n.308-7421G>A
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