Canonical Allele Identifier: CA107748424
Gene:

Linked Data

dbSNP Id: rs548184607

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.144559293G>T , CM000666.2:g.144559293G>T GRCh38
NC_000004.11:g.145480445G>T , CM000666.1:g.145480445G>T GRCh37
NC_000004.10:g.145699895G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000649263.1:c.328-143315C>A ENSP00000497507.1:n.328-143315C>A
XR_939272.1:n.178+2691C>A
XR_939273.1:n.178+2691C>A
XR_939272.2:n.522+2691C>A
XR_939273.2:n.522+2691C>A