Canonical Allele Identifier: CA850756833
Gene:

Linked Data

dbSNP Id: rs1333548171
gnomAD v3: 8-31176568-A-G
gnomAD v4: 8-31176568-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31176568A>G , CM000670.2:g.31176568A>G GRCh38
NC_000008.10:g.31034084A>G , CM000670.1:g.31034084A>G GRCh37
NC_000008.9:g.31153626A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_949642.1:n.249A>G
XR_949643.1:n.87+124T>C
XR_949644.1:n.87+124T>C
XR_949645.1:n.87+124T>C
XR_949646.1:n.87+124T>C
XR_949647.1:n.700+124T>C
XR_949648.1:n.602+124T>C