Canonical Allele Identifier: CA2596570959
Gene:

Linked Data

dbSNP Id: rs2103837454
gnomAD v3: 2-41534430-T-G
gnomAD v4: 2-41534430-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.41534430T>G , CM000664.2:g.41534430T>G GRCh38
NC_000002.11:g.41761570T>G , CM000664.1:g.41761570T>G GRCh37
NC_000002.10:g.41615074T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_939996.1:n.181+3296A>C
XR_939997.1:n.146+3296A>C
XR_939997.2:n.9529+3296A>C
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