Canonical Allele Identifier: CA12231522
Gene: TSBP1-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.32255481T>C
GRCh37 chr6:g.32223258T>C
gnomAD v2:
6:32223258 T / C
gnomAD v3:
6:32255481 T / C
gnomAD v4:
chr6-32255481-T-C
Joint Max Group AF 0.76789387 (AMR)
Genomes Max Group AF 0.7674266 (AMR)
Exomes Max Group AF 0.81860794 (SAS)
dbSNP:
3130320
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32255481T>C , CM000668.2:g.32255481T>C GRCh38
NC_000006.11:g.32223258T>C , CM000668.1:g.32223258T>C GRCh37
NC_000006.10:g.32331236T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_136244.1:n.242+67T>C
NR_136245.1:n.242+67T>C
NR_136246.1:n.242+67T>C
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