Canonical Allele Identifier: CA2690022884
Gene:

Linked Data

gnomAD v4: 9-38456311-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38456311T>C , CM000671.2:g.38456311T>C GRCh38
NC_000009.11:g.38456308T>C , CM000671.1:g.38456308T>C GRCh37
NC_000009.10:g.38446308T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000637760.2:n.649+118T>C
ENST00000685989.1:n.647+118T>C
ENST00000635962.1:n.647+118T>C
ENST00000636076.1:n.76+118T>C
ENST00000637760.1:n.649+118T>C
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