Canonical Allele Identifier: CA580988461
Gene:

Linked Data

dbSNP Id: rs1230879467
gnomAD v2: 8-31034058-C-T
MyVariant Identifiers: chr8:g.31034058C>T (hg19) chr8:g.31176542C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31176542C>T , CM000670.2:g.31176542C>T GRCh38
NC_000008.10:g.31034058C>T , CM000670.1:g.31034058C>T GRCh37
NC_000008.9:g.31153600C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_949642.1:n.223C>T
XR_949643.1:n.87+150G>A
XR_949644.1:n.87+150G>A
XR_949645.1:n.87+150G>A
XR_949646.1:n.87+150G>A
XR_949647.1:n.700+150G>A
XR_949648.1:n.602+150G>A
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