Canonical Allele Identifier: CA5839677
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 633254
ClinVar RCV Id: RCV000781435 RCV001284486
dbSNP Id: rs759337708
ExAC: 11:5246780 A / G
gnomAD v2: 11-5246780-A-G
gnomAD v3: 11-5225550-A-G
gnomAD v4: 11-5225550-A-G
MyVariant Identifiers: chr11:g.5246780A>G (hg19) chr11:g.5225550A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225550A>G , CM000673.2:g.5225550A>G GRCh38
NC_000011.9:g.5246780A>G , CM000673.1:g.5246780A>G GRCh37
NC_000011.8:g.5203356A>G NCBI36
NG_000007.3:g.72066T>C
NG_059281.1:g.6522T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.*48T>C ENSP00000494175.1:n.*48T>C
ENST00000335295.4:c.*48T>C MANE Select ENSP00000333994.3:n.*48T>C
ENST00000633227.1:c.*308T>C ENSP00000488004.1:n.*308T>C
NM_000518.4:c.*48T>C NP_000509.1:n.*48T>C
NM_000518.5:c.*48T>C MANE Select NP_000509.1:n.*48T>C
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