Canonical Allele Identifier: CA1138670284
Gene:

Linked Data

dbSNP Id: rs2124487966
gnomAD v3: Y-2818428-G-A
gnomAD v4: Y-2818428-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2818428G>A , CM000686.2:g.2818428G>A GRCh38
NC_000024.9:g.2686469G>A , CM000686.1:g.2686469G>A GRCh37
NC_000024.8:g.2746469G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000679518.1:n.107-23058G>A
ENST00000681787.1:n.107-22600G>A
ENST00000681940.1:n.107-27218G>A
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