Canonical Allele Identifier: CA835018754
Gene:

Linked Data

dbSNP Id: rs1273133372

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148807175T>G , CM000669.2:g.148807175T>G GRCh38
NC_000007.13:g.148504267T>G , CM000669.1:g.148504267T>G GRCh37
NC_000007.12:g.148135200T>G NCBI36
NG_032043.1:g.82175A>C , LRG_531:g.82175A>C

Transcript Alleles

HGVS Amino-acid Change
XR_928101.1:n.515+2090T>G
XR_928102.1:n.722+2090T>G