Canonical Allele Identifier: CA1069047618
Gene:

Linked Data

dbSNP Id: rs1733819821
gnomAD v3: 4-144559237-C-T
gnomAD v4: 4-144559237-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.144559237C>T , CM000666.2:g.144559237C>T GRCh38
NC_000004.11:g.145480389C>T , CM000666.1:g.145480389C>T GRCh37
NC_000004.10:g.145699839C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000649263.1:c.328-143259G>A ENSP00000497507.1:n.328-143259G>A
XR_939272.1:n.178+2747G>A
XR_939273.1:n.178+2747G>A
XR_939272.2:n.522+2747G>A
XR_939273.2:n.522+2747G>A
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