Canonical Allele Identifier: CA959793312
Gene:

Linked Data

dbSNP Id: rs1881653587
gnomAD v3: 13-104826352-T-C
gnomAD v4: 13-104826352-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.104826352T>C , CM000675.2:g.104826352T>C GRCh38
NC_000013.10:g.105478703T>C , CM000675.1:g.105478703T>C GRCh37
NC_000013.9:g.104276704T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001749993.1:n.242-2565A>G
XR_001749994.1:n.243+10851A>G
XR_001749995.1:n.253+10851A>G
XR_001749996.1:n.1897-2703T>C
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