Canonical Allele Identifier: CA2707475837
Gene:

Linked Data

dbSNP Id: rs2126794765

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.148649661T>C , CM000666.2:g.148649661T>C GRCh38
NC_000004.11:g.149570813T>C , CM000666.1:g.149570813T>C GRCh37
NC_000004.10:g.149790263T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_939336.1:n.436+30671A>G
XR_001741441.1:n.1745+105077T>C
XR_939336.3:n.2920+30671A>G