ClinGen Allele Registry
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Canonical Allele Identifier:
CA259319068
Gene: BRMS1L
HGNC
NCBI
Linked Data
dbSNP:
1168987
gnomAD v2:
14:36397680 C / T
gnomAD v3:
14:35928474 C / T
gnomAD v4:
chr14-35928474-C-T
Joint Max Group AF
0.19772652 (EAS)
Genomes Max Group AF
0.19772652 (EAS)
MyVariant.info:
GRCh38
chr14:g.35928474C>T
GRCh37
chr14:g.36397680C>T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.35928474C>T , CM000676.2:g.35928474C>T
GRCh38
NC_000014.8:g.36397680C>T , CM000676.1:g.36397680C>T
GRCh37
NC_000014.7:g.35467431C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000551774.1:c.599-3249C>T
Search 100 bp 5'
Search 100 bp 3'