Canonical Allele Identifier: CA1365145586
Gene:

Linked Data

dbSNP Id: rs1700427280

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53056937G>C , CM000665.2:g.53056937G>C GRCh38
NC_000003.11:g.53090953G>C , CM000665.1:g.53090953G>C GRCh37
NC_000003.10:g.53065993G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000607203.1:c.318-9698C>G
ENST00000607283.5:c.465-13683C>G
ENST00000607495.5:c.447+20751C>G