Canonical Allele Identifier: CA133346504
Gene:

Linked Data

dbSNP Id: rs74339533
gnomAD v2: 6-465811-C-T
gnomAD v3: 6-465811-C-T
gnomAD v4: 6-465811-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.465811C>T , CM000668.2:g.465811C>T GRCh38
NC_000006.11:g.465811C>T , CM000668.1:g.465811C>T GRCh37
NC_000006.10:g.410811C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926364.1:n.2714+12086C>T
XR_926365.1:n.2548+12086C>T
XR_001743914.1:n.482-9397C>T