Canonical Allele Identifier: CA683994823
Gene:

Linked Data

dbSNP Id: rs1384842406

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115398647T>C , CM000674.2:g.115398647T>C GRCh38
NC_000012.11:g.115836452T>C , CM000674.1:g.115836452T>C GRCh37
NC_000012.10:g.114320835T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_945389.1:n.697+8448A>G
XR_945389.2:n.701+8448A>G