Canonical Allele Identifier: CA1069332437
Gene:

Linked Data

dbSNP Id: rs1731230964
gnomAD v3: 4-148649589-G-C
gnomAD v4: 4-148649589-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.148649589G>C , CM000666.2:g.148649589G>C GRCh38
NC_000004.11:g.149570741G>C , CM000666.1:g.149570741G>C GRCh37
NC_000004.10:g.149790191G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_939336.1:n.437-30721C>G
XR_001741441.1:n.1745+105005G>C
XR_939336.3:n.2921-30721C>G
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