Canonical Allele Identifier: CA1029770054
Gene:

Linked Data

dbSNP Id: rs756816578
gnomAD v3: 2-41534773-T-C
gnomAD v4: 2-41534773-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.41534773T>C , CM000664.2:g.41534773T>C GRCh38
NC_000002.11:g.41761913T>C , CM000664.1:g.41761913T>C GRCh37
NC_000002.10:g.41615417T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_939996.1:n.181+2953A>G
XR_939997.1:n.146+2953A>G
XR_939997.2:n.9529+2953A>G
Search 100 bp 5'
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