Canonical Allele Identifier: CA1069061998
Gene:

Linked Data

gnomAD v3: 4-144601552-A-C
gnomAD v4: 4-144601552-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.144601552A>C , CM000666.2:g.144601552A>C GRCh38
NC_000004.11:g.145522704A>C , CM000666.1:g.145522704A>C GRCh37
NC_000004.10:g.145742154A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000649263.1:c.328-185574T>G ENSP00000497507.1:n.328-185574T>G
Search 100 bp 5'
Search 100 bp 3'