Canonical Allele Identifier: CA2685463864
Gene:

Linked Data

gnomAD v4: 7-148807244-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148807244C>A , CM000669.2:g.148807244C>A GRCh38
NC_000007.13:g.148504336C>A , CM000669.1:g.148504336C>A GRCh37
NC_000007.12:g.148135269C>A NCBI36
NG_032043.1:g.82106G>T , LRG_531:g.82106G>T

Transcript Alleles

HGVS Amino-acid Change
XR_928101.1:n.515+2159C>A
XR_928102.1:n.722+2159C>A
Search 100 bp 5'
Search 100 bp 3'