Canonical Allele Identifier: CA999297669
Gene:

Linked Data

dbSNP Id: rs2045189103
gnomAD v3: 1-19874475-C-T
gnomAD v4: 1-19874475-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.19874475C>T , CM000663.2:g.19874475C>T GRCh38
NC_000001.10:g.20200968C>T , CM000663.1:g.20200968C>T GRCh37
NC_000001.9:g.20073555C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_947027.1:n.266-8723G>A
XR_947028.1:n.266-8723G>A
XR_947027.2:n.167-8723G>A
XR_947028.2:n.167-8723G>A
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