Canonical Allele Identifier: CA1138669030
Gene:

Linked Data

gnomAD v3: Y-2789149-G-T
gnomAD v4: Y-2789149-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2789149G>T , CM000686.2:g.2789149G>T GRCh38
NC_000024.9:g.2657190G>T , CM000686.1:g.2657190G>T GRCh37
NC_000024.8:g.2717190G>T NCBI36
NG_011751.1:g.3603C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000679518.1:n.106+14410G>T
ENST00000680285.1:n.320-600G>T
ENST00000681787.1:n.106+14410G>T
ENST00000681940.1:n.106+14410G>T
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