Canonical Allele Identifier: CA1365150288
Gene:

Linked Data

dbSNP Id: rs6770152

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53066198G>C , CM000665.2:g.53066198G>C GRCh38
NC_000003.11:g.53100214G>C , CM000665.1:g.53100214G>C GRCh37
NC_000003.10:g.53075254G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000607203.1:c.317+11490C>G
ENST00000607283.5:c.464+11490C>G
ENST00000607495.5:c.447+11490C>G