Canonical Allele Identifier: CA1751418912
Gene:

Linked Data

dbSNP Id: rs1801684403

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148807151T>G , CM000669.2:g.148807151T>G GRCh38
NC_000007.13:g.148504243T>G , CM000669.1:g.148504243T>G GRCh37
NC_000007.12:g.148135176T>G NCBI36
NG_032043.1:g.82199A>C , LRG_531:g.82199A>C

Transcript Alleles

HGVS Amino-acid Change
XR_928101.1:n.515+2066T>G
XR_928102.1:n.722+2066T>G