Canonical Allele Identifier: CA1751419000
Gene:

Linked Data

dbSNP Id: rs1801707932

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148807240C>A , CM000669.2:g.148807240C>A GRCh38
NC_000007.13:g.148504332C>A , CM000669.1:g.148504332C>A GRCh37
NC_000007.12:g.148135265C>A NCBI36
NG_032043.1:g.82110G>T , LRG_531:g.82110G>T

Transcript Alleles

HGVS Amino-acid Change
XR_928101.1:n.515+2155C>A
XR_928102.1:n.722+2155C>A