Canonical Allele Identifier: CA16841579
Gene:

Linked Data

dbSNP Id: rs924209747
gnomAD v3: 1-2036385-T-G
gnomAD v4: 1-2036385-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2036385T>G , CM000663.2:g.2036385T>G GRCh38
NC_000001.10:g.1967824T>G , CM000663.1:g.1967824T>G GRCh37
NC_000001.9:g.1957684T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_946823.1:n.773+50A>C
XR_001737845.2:n.826A>C
XR_946823.3:n.776+50A>C