Canonical Allele Identifier: CA2830610567
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148807240C>G , CM000669.2:g.148807240C>G GRCh38
NC_000007.13:g.148504332C>G , CM000669.1:g.148504332C>G GRCh37
NC_000007.12:g.148135265C>G NCBI36
NG_032043.1:g.82110G>C , LRG_531:g.82110G>C

Transcript Alleles

HGVS Amino-acid Change
XR_928101.1:n.515+2155C>G
XR_928102.1:n.722+2155C>G