Canonical Allele Identifier: CA2686840907
Gene:

Linked Data

gnomAD v4: 8-31176618-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31176618T>C , CM000670.2:g.31176618T>C GRCh38
NC_000008.10:g.31034134T>C , CM000670.1:g.31034134T>C GRCh37
NC_000008.9:g.31153676T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_949642.1:n.270+29T>C
XR_949643.1:n.87+74A>G
XR_949644.1:n.87+74A>G
XR_949645.1:n.87+74A>G
XR_949646.1:n.87+74A>G
XR_949647.1:n.700+74A>G
XR_949648.1:n.602+74A>G