Canonical Allele Identifier: CA337626012
Gene:

Linked Data

dbSNP Id: rs16981340

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.8734374T>C , CM000686.2:g.8734374T>C GRCh38
NC_000024.9:g.8602415T>C , CM000686.1:g.8602415T>C GRCh37
NC_000024.8:g.8662415T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000623558.1:n.197-5456T>C ENSP00000485446.1:n.197-5456T>C
ENST00000624237.1:n.64-7681T>C ENSP00000485137.1:n.64-7681T>C
ENST00000624593.1:c.-57+14342A>G ENSP00000485106.1:n.-57+14342A>G