Canonical Allele Identifier: CA1069047752
Gene:

Linked Data

dbSNP Id: rs1733834662
gnomAD v3: 4-144559934-G-A
gnomAD v4: 4-144559934-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.144559934G>A , CM000666.2:g.144559934G>A GRCh38
NC_000004.11:g.145481086G>A , CM000666.1:g.145481086G>A GRCh37
NC_000004.10:g.145700536G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000649263.1:c.328-143956C>T ENSP00000497507.1:n.328-143956C>T
XR_939272.1:n.178+2050C>T
XR_939273.1:n.178+2050C>T
XR_939272.2:n.522+2050C>T
XR_939273.2:n.522+2050C>T
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