Canonical Allele Identifier: CA788486488
Gene:

Linked Data

dbSNP Id: rs1190828727

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.144559582A>G , CM000666.2:g.144559582A>G GRCh38
NC_000004.11:g.145480734A>G , CM000666.1:g.145480734A>G GRCh37
NC_000004.10:g.145700184A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000649263.1:c.328-143604T>C ENSP00000497507.1:n.328-143604T>C
XR_939272.1:n.178+2402T>C
XR_939273.1:n.178+2402T>C
XR_939272.2:n.522+2402T>C
XR_939273.2:n.522+2402T>C