Canonical Allele Identifier: CA2269954645
Gene:

Linked Data

dbSNP Id: rs2031066883

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63506340C>T , CM000679.2:g.63506340C>T GRCh38
NC_000017.10:g.61583701C>T , CM000679.1:g.61583701C>T GRCh37
NC_000017.9:g.58937433C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000577647.2:c.1970-716C>T ENSP00000464149.1:n.1970-716C>T