Canonical Allele Identifier: CA1069047613
Gene:

Linked Data

dbSNP Id: rs1733819325
gnomAD v3: 4-144559201-T-G
gnomAD v4: 4-144559201-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.144559201T>G , CM000666.2:g.144559201T>G GRCh38
NC_000004.11:g.145480353T>G , CM000666.1:g.145480353T>G GRCh37
NC_000004.10:g.145699803T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000649263.1:c.328-143223A>C ENSP00000497507.1:n.328-143223A>C
XR_939272.1:n.178+2783A>C
XR_939273.1:n.178+2783A>C
XR_939272.2:n.522+2783A>C
XR_939273.2:n.522+2783A>C
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