Canonical Allele Identifier: CA16464167
Gene: HMGB1 HGNC NCBI
COSMIC:
COSN6622297 (not active)
MyVariant.info:
GRCh38 chr13:g.30467458C>T
GRCh37 chr13:g.31041595C>T
gnomAD v2:
13:31041595 C / T
gnomAD v3:
13:30467458 C / T
gnomAD v4:
chr13-30467458-C-T
Joint Max Group AF 0.70691389 (EAS)
Genomes Max Group AF 0.70691389 (EAS)
dbSNP:
1412125
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.30467458C>T , CM000675.2:g.30467458C>T GRCh38
NC_000013.10:g.31041595C>T , CM000675.1:g.31041595C>T GRCh37
NC_000013.9:g.29939595C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000405805.5:c.-14-3764G>A ENSP00000384678.1:n.-14-3764G>A
NM_001313893.1:c.-14-3764G>A NP_001300822.1:n.-14-3764G>A
XM_024449340.1:c.-14-3764G>A XP_024305108.1:n.-14-3764G>A
NM_001370340.1:c.-14-3764G>A NP_001357269.1:n.-14-3764G>A
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