Canonical Allele Identifier: CA1557963300
Gene:

Linked Data

dbSNP Id: rs1443195974

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79549796C>G , CM000667.2:g.79549796C>G GRCh38
NC_000005.9:g.78845619C>G , CM000667.1:g.78845619C>G GRCh37
NC_000005.8:g.78881375C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_948497.1:n.72+2152C>G
XR_948498.1:n.159+1959C>G
XR_948499.1:n.67+1494C>G
XR_948497.2:n.72+2152C>G
XR_948498.2:n.159+1959C>G
XR_948499.2:n.225+1494C>G