Canonical Allele Identifier: CA1029769776
Gene:

Linked Data

dbSNP Id: rs944639195
gnomAD v3: 2-41534455-G-C
gnomAD v4: 2-41534455-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.41534455G>C , CM000664.2:g.41534455G>C GRCh38
NC_000002.11:g.41761595G>C , CM000664.1:g.41761595G>C GRCh37
NC_000002.10:g.41615099G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_939996.1:n.181+3271C>G
XR_939997.1:n.146+3271C>G
XR_939997.2:n.9529+3271C>G
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