Canonical Allele Identifier: CA960867044
Gene:

Linked Data

dbSNP Id: rs1879069829
gnomAD v3: 14-20793551-C-T
gnomAD v4: 14-20793551-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20793551C>T , CM000676.2:g.20793551C>T GRCh38
NC_000014.8:g.21261710C>T , CM000676.1:g.21261710C>T GRCh37
NC_000014.7:g.20331550C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_943584.1:n.585+765C>T
XR_943585.1:n.585+765C>T
XR_001750620.1:n.3271+765C>T
XR_001750621.1:n.3271+765C>T
XR_001750622.1:n.637+6353G>A
XR_001750623.1:n.637+6353G>A
XR_001750624.1:n.637+6353G>A
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