Canonical Allele Identifier: CA168905093
Gene:

Linked Data

dbSNP Id: rs545351271
gnomAD v2: 7-148504266-G-A
gnomAD v3: 7-148807174-G-A
gnomAD v4: 7-148807174-G-A
MyVariant Identifiers: chr7:g.148504266G>A (hg19) chr7:g.148807174G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148807174G>A , CM000669.2:g.148807174G>A GRCh38
NC_000007.13:g.148504266G>A , CM000669.1:g.148504266G>A GRCh37
NC_000007.12:g.148135199G>A NCBI36
NG_032043.1:g.82176C>T , LRG_531:g.82176C>T

Transcript Alleles

HGVS Amino-acid Change
XR_928101.1:n.515+2089G>A
XR_928102.1:n.722+2089G>A
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