Canonical Allele Identifier: CA2702645888
Gene:

Linked Data

dbSNP Id: rs2107006423

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53057132T>C , CM000665.2:g.53057132T>C GRCh38
NC_000003.11:g.53091148T>C , CM000665.1:g.53091148T>C GRCh37
NC_000003.10:g.53066188T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000607203.1:c.318-9893A>G
ENST00000607283.5:c.465-13878A>G
ENST00000607495.5:c.447+20556A>G