Canonical Allele Identifier: CA1066321249
Gene:

Linked Data

dbSNP Id: rs1724788098
gnomAD v3: 4-105542928-A-G
gnomAD v4: 4-105542928-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.105542928A>G , CM000666.2:g.105542928A>G GRCh38
NC_000004.11:g.106464085A>G , CM000666.1:g.106464085A>G GRCh37
NC_000004.10:g.106683534A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_939038.1:n.296-219T>C
XR_939039.1:n.456-219T>C
XR_939040.1:n.296-1452T>C
XR_001741410.1:n.311-219T>C
XR_001741411.1:n.787-219T>C
XR_001741412.1:n.311-219T>C
XR_001741413.1:n.311-219T>C
XR_001741414.1:n.311-219T>C
XR_939038.2:n.311-219T>C
XR_939040.2:n.311-1452T>C
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