Canonical Allele Identifier: CA174890922
Gene:

Linked Data

dbSNP Id: rs182772085
gnomAD v2: 8-31034273-A-G
gnomAD v3: 8-31176757-A-G
gnomAD v4: 8-31176757-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31176757A>G , CM000670.2:g.31176757A>G GRCh38
NC_000008.10:g.31034273A>G , CM000670.1:g.31034273A>G GRCh37
NC_000008.9:g.31153815A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_949642.1:n.286A>G
XR_949643.1:n.22T>C
XR_949644.1:n.22T>C
XR_949645.1:n.22T>C
XR_949646.1:n.22T>C
XR_949647.1:n.635T>C
XR_949648.1:n.537T>C