Canonical Allele Identifier: CA24910481
Gene:

Linked Data

dbSNP Id: rs911386728
gnomAD v3: 1-72299358-A-G
gnomAD v4: 1-72299358-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.72299358A>G , CM000663.2:g.72299358A>G GRCh38
NC_000001.10:g.72765041A>G , CM000663.1:g.72765041A>G GRCh37
NC_000001.9:g.72537629A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_947505.1:n.310+15953A>G
XR_947506.1:n.310+15953A>G
XR_947507.1:n.310+15953A>G
XR_001737670.1:n.414+15953A>G
XR_001737671.2:n.418+15953A>G
XR_947505.2:n.414+15953A>G
XR_947506.2:n.414+15953A>G