Canonical Allele Identifier: CA2691985592
Gene:

Linked Data

dbSNP Id: rs2131126486
gnomAD v4: 9-128945515-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128945515C>A , CM000671.2:g.128945515C>A GRCh38
NC_000009.11:g.131707794C>A , CM000671.1:g.131707794C>A GRCh37
NC_000009.10:g.130747615C>A NCBI36
NG_017009.1:g.7219G>T , LRG_744:g.7219G>T
NG_033111.1:g.2823C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000482796.1:c.39-3674C>A ENSP00000417556.2:n.39-3674C>A
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