Canonical Allele Identifier: CA1066140513
Gene:

Linked Data

dbSNP Id: rs1738890098
gnomAD v3: 4-102499901-T-C
gnomAD v4: 4-102499901-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102499901T>C , CM000666.2:g.102499901T>C GRCh38
NC_000004.11:g.103421058T>C , CM000666.1:g.103421058T>C GRCh37
NC_000004.10:g.103640090T>C NCBI36
NG_050628.1:g.3573T>C

Transcript Alleles

HGVS Amino-acid Change
XM_011532467.1:c.643+1348A>G XP_011530769.1:n.643+1348A>G
NR_136202.1:n.48+2538A>G
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