Canonical Allele Identifier: CA2558989866
Gene:

Linked Data

gnomAD v4: 8-31176546-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31176546G>T , CM000670.2:g.31176546G>T GRCh38
NC_000008.10:g.31034062G>T , CM000670.1:g.31034062G>T GRCh37
NC_000008.9:g.31153604G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_949642.1:n.227G>T
XR_949643.1:n.87+146C>A
XR_949644.1:n.87+146C>A
XR_949645.1:n.87+146C>A
XR_949646.1:n.87+146C>A
XR_949647.1:n.700+146C>A
XR_949648.1:n.602+146C>A