Canonical Allele Identifier: CA1139019631
Gene:

Linked Data

gnomAD v3: Y-8605986-T-C
gnomAD v4: Y-8605986-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.8605986T>C , CM000686.2:g.8605986T>C GRCh38
NC_000024.9:g.8474027T>C , CM000686.1:g.8474027T>C GRCh37
NC_000024.8:g.8534027T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000624507.1:c.53-955A>G ENSP00000485522.1:n.53-955A>G
ENST00000624593.1:c.92+16866A>G ENSP00000485106.1:n.92+16866A>G
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