Canonical Allele Identifier: CA168905156
Gene:

Linked Data

dbSNP Id: rs73469676
gnomAD v2: 7-148504344-C-A
gnomAD v3: 7-148807252-C-A
gnomAD v4: 7-148807252-C-A
MyVariant Identifiers: chr7:g.148504344C>A (hg19) chr7:g.148807252C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148807252C>A , CM000669.2:g.148807252C>A GRCh38
NC_000007.13:g.148504344C>A , CM000669.1:g.148504344C>A GRCh37
NC_000007.12:g.148135277C>A NCBI36
NG_032043.1:g.82098G>T , LRG_531:g.82098G>T

Transcript Alleles

HGVS Amino-acid Change
XR_928101.1:n.515+2167C>A
XR_928102.1:n.722+2167C>A
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