Canonical Allele Identifier: CA2467802662
Gene:

Linked Data

dbSNP Id: rs776419476

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.640952G>A , CM000686.2:g.640952G>A GRCh38
NC_000024.9:g.551687G>A , CM000686.1:g.551687G>A GRCh37
NC_000024.8:g.521687G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000711141.1:c.545-47G>A ENSP00000518639.1:n.545-47G>A
ENST00000711142.1:c.545-47G>A ENSP00000518640.1:n.545-47G>A
ENST00000711143.1:c.545-47G>A ENSP00000518641.1:n.545-47G>A
ENST00000711145.1:c.545-47G>A ENSP00000518642.1:n.545-47G>A