Canonical Allele Identifier: CA174890929
Gene:

Linked Data

dbSNP Id: rs527403945
gnomAD v2: 8-31034297-C-T
gnomAD v3: 8-31176781-C-T
gnomAD v4: 8-31176781-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31176781C>T , CM000670.2:g.31176781C>T GRCh38
NC_000008.10:g.31034297C>T , CM000670.1:g.31034297C>T GRCh37
NC_000008.9:g.31153839C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_949642.1:n.310C>T
XR_949647.1:n.611G>A
XR_949648.1:n.513G>A