Canonical Allele Identifier: CA2686840932

Gene:

Linked Data

• gnomAD v4: 8-31176669-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31176669G>T , CM000670.2:g.31176669G>T	GRCh38
NC_000008.10:g.31034185G>T , CM000670.1:g.31034185G>T	GRCh37
NC_000008.9:g.31153727G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_949642.1:n.271-73G>T
XR_949643.1:n.87+23C>A
XR_949644.1:n.87+23C>A
XR_949645.1:n.87+23C>A
XR_949646.1:n.87+23C>A
XR_949647.1:n.700+23C>A
XR_949648.1:n.602+23C>A