Canonical Allele Identifier: CA1751418973
Gene:

Linked Data

dbSNP Id: rs1801697713

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148807209C>T , CM000669.2:g.148807209C>T GRCh38
NC_000007.13:g.148504301C>T , CM000669.1:g.148504301C>T GRCh37
NC_000007.12:g.148135234C>T NCBI36
NG_032043.1:g.82141G>A , LRG_531:g.82141G>A

Transcript Alleles

HGVS Amino-acid Change
XR_928101.1:n.515+2124C>T
XR_928102.1:n.722+2124C>T