Canonical Allele Identifier: CA1069332426
Gene:

Linked Data

dbSNP Id: rs1731230375
gnomAD v3: 4-148649536-G-A
gnomAD v4: 4-148649536-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.148649536G>A , CM000666.2:g.148649536G>A GRCh38
NC_000004.11:g.149570688G>A , CM000666.1:g.149570688G>A GRCh37
NC_000004.10:g.149790138G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_939336.1:n.437-30668C>T
XR_001741441.1:n.1745+104952G>A
XR_939336.3:n.2921-30668C>T
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