Canonical Allele Identifier: CA2691985596
Gene:

Linked Data

gnomAD v4: 9-128945517-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128945517G>T , CM000671.2:g.128945517G>T GRCh38
NC_000009.11:g.131707796G>T , CM000671.1:g.131707796G>T GRCh37
NC_000009.10:g.130747617G>T NCBI36
NG_017009.1:g.7217C>A , LRG_744:g.7217C>A
NG_033111.1:g.2825G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000482796.1:c.39-3672G>T ENSP00000417556.2:n.39-3672G>T
Search 100 bp 5'
Search 100 bp 3'