Canonical Allele Identifier: CA2610262397
Gene:

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94762567T>C , CM000672.2:g.94762567T>C GRCh38
NC_000010.10:g.96522324T>C , CM000672.1:g.96522324T>C GRCh37
NC_000010.9:g.96512314T>C NCBI36
NG_008384.2:g.4862T>C
NG_008384.3:g.4887T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000464755.1:c.932-12491T>C ENSP00000483243.1:n.932-12491T>C