Canonical Allele Identifier: CA133613587
Gene:

Linked Data

dbSNP Id: rs762901287
gnomAD v2: 6-1535855-G-C
gnomAD v3: 6-1535620-G-C
gnomAD v4: 6-1535620-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1535620G>C , CM000668.2:g.1535620G>C GRCh38
NC_000006.11:g.1535855G>C , CM000668.1:g.1535855G>C GRCh37
NC_000006.10:g.1480854G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_427861.2:n.234+16726C>G
XR_926380.1:n.218-2836G>C
XR_926381.1:n.1108-2836G>C
XR_926382.1:n.235-6441C>G
XR_926384.1:n.200-6441C>G
XR_001743921.1:n.235-6465C>G
XR_427861.3:n.234+16726C>G
XR_926381.2:n.1123-2836G>C