Canonical Allele Identifier: CA1138669032
Gene:

Linked Data

gnomAD v3: Y-2789182-C-T
gnomAD v4: Y-2789182-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2789182C>T , CM000686.2:g.2789182C>T GRCh38
NC_000024.9:g.2657223C>T , CM000686.1:g.2657223C>T GRCh37
NC_000024.8:g.2717223C>T NCBI36
NG_011751.1:g.3570G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000679518.1:n.106+14443C>T
ENST00000680285.1:n.320-567C>T
ENST00000681787.1:n.106+14443C>T
ENST00000681940.1:n.106+14443C>T
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