Canonical Allele Identifier: CA2135545215
Gene:

Linked Data

dbSNP Id: rs1880003374
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49067773G>A , CM000676.2:g.49067773G>A GRCh38
NC_000014.8:g.49534491G>A , CM000676.1:g.49534491G>A GRCh37
NC_000014.7:g.48604241G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_943837.1:n.222+2019C>T
XR_943837.2:n.345+2019C>T
Search 100 bp 5'
Search 100 bp 3'