Canonical Allele Identifier: CA2710977569
Gene:

Linked Data

dbSNP Id: rs2113482063

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.11943331T>C , CM000668.2:g.11943331T>C GRCh38
NC_000006.11:g.11943564T>C , CM000668.1:g.11943564T>C GRCh37
NC_000006.10:g.12051550T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001743976.1:n.348-8204T>C