Canonical Allele Identifier: CA133613591
Gene:

Linked Data

dbSNP Id: rs180672596
gnomAD v3: 6-1535703-C-T
gnomAD v4: 6-1535703-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1535703C>T , CM000668.2:g.1535703C>T GRCh38
NC_000006.11:g.1535938C>T , CM000668.1:g.1535938C>T GRCh37
NC_000006.10:g.1480937C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_427861.2:n.234+16643G>A
XR_926380.1:n.218-2753C>T
XR_926381.1:n.1108-2753C>T
XR_926382.1:n.235-6524G>A
XR_926384.1:n.200-6524G>A
XR_001743921.1:n.235-6548G>A
XR_427861.3:n.234+16643G>A
XR_926381.2:n.1123-2753C>T