Canonical Allele Identifier: CA5839689
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 3067562
ClinVar RCV Id: RCV003993251
dbSNP Id: rs748704616
ExAC: 11:5246860 C / T
gnomAD v2: 11-5246860-C-T
gnomAD v4: 11-5225630-C-T
MyVariant Identifiers: chr11:g.5246860C>T (hg19) chr11:g.5225630C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225630C>T , CM000673.2:g.5225630C>T GRCh38
NC_000011.9:g.5246860C>T , CM000673.1:g.5246860C>T GRCh37
NC_000011.8:g.5203436C>T NCBI36
NG_000007.3:g.71986G>A
NG_059281.1:g.6442G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.412G>A ENSP00000494175.1:p.Val138Met
ENST00000335295.4:c.412G>A MANE Select ENSP00000333994.3:p.Val138Met
ENST00000633227.1:c.*228G>A ENSP00000488004.1:n.*228G>A
NM_000518.4:c.412G>A NP_000509.1:p.Val138Met
NM_000518.5:c.412G>A MANE Select NP_000509.1:p.Val138Met
Search 100 bp 5'
Search 100 bp 3'