Canonical Allele Identifier: CA2685463863
Gene:

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148807241T>C , CM000669.2:g.148807241T>C GRCh38
NC_000007.13:g.148504333T>C , CM000669.1:g.148504333T>C GRCh37
NC_000007.12:g.148135266T>C NCBI36
NG_032043.1:g.82109A>G , LRG_531:g.82109A>G

Transcript Alleles

HGVS Amino-acid Change
XR_928101.1:n.515+2156T>C
XR_928102.1:n.722+2156T>C