Canonical Allele Identifier: CA1066321242
Gene:

Linked Data

dbSNP Id: rs1724787533
gnomAD v3: 4-105542884-G-A
gnomAD v4: 4-105542884-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.105542884G>A , CM000666.2:g.105542884G>A GRCh38
NC_000004.11:g.106464041G>A , CM000666.1:g.106464041G>A GRCh37
NC_000004.10:g.106683490G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_939038.1:n.296-175C>T
XR_939039.1:n.456-175C>T
XR_939040.1:n.296-1408C>T
XR_001741410.1:n.311-175C>T
XR_001741411.1:n.787-175C>T
XR_001741412.1:n.311-175C>T
XR_001741413.1:n.311-175C>T
XR_001741414.1:n.311-175C>T
XR_939038.2:n.311-175C>T
XR_939040.2:n.311-1408C>T
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