Canonical Allele Identifier: CA565162901
Gene:

Linked Data

dbSNP Id: rs1384245860
gnomAD v2: 6-1536166-C-T
gnomAD v3: 6-1535931-C-T
gnomAD v4: 6-1535931-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1535931C>T , CM000668.2:g.1535931C>T GRCh38
NC_000006.11:g.1536166C>T , CM000668.1:g.1536166C>T GRCh37
NC_000006.10:g.1481165C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_427861.2:n.234+16415G>A
XR_926380.1:n.218-2525C>T
XR_926381.1:n.1108-2525C>T
XR_926382.1:n.235-6752G>A
XR_926384.1:n.200-6752G>A
XR_001743921.1:n.235-6776G>A
XR_427861.3:n.234+16415G>A
XR_926381.2:n.1123-2525C>T