Canonical Allele Identifier: CA1138669109
Gene:

Linked Data

dbSNP Id: rs2051126526
gnomAD v3: Y-2791277-G-A
gnomAD v4: Y-2791277-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2791277G>A , CM000686.2:g.2791277G>A GRCh38
NC_000024.9:g.2659318G>A , CM000686.1:g.2659318G>A GRCh37
NC_000024.8:g.2719318G>A NCBI36
NG_011751.1:g.1475C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000679518.1:n.106+16538G>A
ENST00000681787.1:n.106+16538G>A
ENST00000681940.1:n.106+16538G>A
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