Canonical Allele Identifier: CA2610262440
Gene:

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94762620A>C , CM000672.2:g.94762620A>C GRCh38
NC_000010.10:g.96522377A>C , CM000672.1:g.96522377A>C GRCh37
NC_000010.9:g.96512367A>C NCBI36
NG_008384.2:g.4915A>C
NG_008384.3:g.4940A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000464755.1:c.932-12438A>C ENSP00000483243.1:n.932-12438A>C