Canonical Allele Identifier: CA565162898
Gene:

Linked Data

dbSNP Id: rs1343985051
gnomAD v2: 6-1536163-T-C
gnomAD v3: 6-1535928-T-C
gnomAD v4: 6-1535928-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1535928T>C , CM000668.2:g.1535928T>C GRCh38
NC_000006.11:g.1536163T>C , CM000668.1:g.1536163T>C GRCh37
NC_000006.10:g.1481162T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_427861.2:n.234+16418A>G
XR_926380.1:n.218-2528T>C
XR_926381.1:n.1108-2528T>C
XR_926382.1:n.235-6749A>G
XR_926384.1:n.200-6749A>G
XR_001743921.1:n.235-6773A>G
XR_427861.3:n.234+16418A>G
XR_926381.2:n.1123-2528T>C