Canonical Allele Identifier: CA94621061
Gene:

Linked Data

dbSNP Id: rs11934750
gnomAD v2: 4-27964405-A-T
gnomAD v3: 4-27962783-A-T
gnomAD v4: 4-27962783-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.27962783A>T , CM000666.2:g.27962783A>T GRCh38
NC_000004.11:g.27964405A>T , CM000666.1:g.27964405A>T GRCh37
NC_000004.10:g.27573503A>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_925523.1:n.198-30706A>T
XR_001741500.1:n.156-30706A>T