Canonical Allele Identifier: CA102638083
Gene:

Linked Data

dbSNP Id: rs952883742
gnomAD v3: 4-99474302-C-A
gnomAD v4: 4-99474302-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99474302C>A , CM000666.2:g.99474302C>A GRCh38
NC_000004.11:g.100395459C>A , CM000666.1:g.100395459C>A GRCh37
NC_000004.10:g.100614482C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000506494.1:n.243-2440G>T