Canonical Allele Identifier: CA2685463860
Gene:

Linked Data

gnomAD v4: 7-148807238-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148807238G>T , CM000669.2:g.148807238G>T GRCh38
NC_000007.13:g.148504330G>T , CM000669.1:g.148504330G>T GRCh37
NC_000007.12:g.148135263G>T NCBI36
NG_032043.1:g.82112C>A , LRG_531:g.82112C>A

Transcript Alleles

HGVS Amino-acid Change
XR_928101.1:n.515+2153G>T
XR_928102.1:n.722+2153G>T
Search 100 bp 5'
Search 100 bp 3'