Canonical Allele Identifier: CA2605469258
Gene:

Linked Data

dbSNP Id: rs2129464841

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148807166C>G , CM000669.2:g.148807166C>G GRCh38
NC_000007.13:g.148504258C>G , CM000669.1:g.148504258C>G GRCh37
NC_000007.12:g.148135191C>G NCBI36
NG_032043.1:g.82184G>C , LRG_531:g.82184G>C

Transcript Alleles

HGVS Amino-acid Change
XR_928101.1:n.515+2081C>G
XR_928102.1:n.722+2081C>G