Canonical Allele Identifier: CA2499221084
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1153019
ClinVar RCV Id: RCV001494560
dbSNP Id: rs2133589140
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226918C>T , CM000673.2:g.5226918C>T GRCh38
NC_000011.9:g.5248148C>T , CM000673.1:g.5248148C>T GRCh37
NC_000011.8:g.5204724C>T NCBI36
NG_000007.3:g.70698G>A
NG_059281.1:g.5154G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.92+12G>A ENSP00000494175.1:n.92+12G>A
ENST00000335295.4:c.92+12G>A MANE Select ENSP00000333994.3:n.92+12G>A
ENST00000380315.2:c.92+12G>A ENSP00000369671.2:n.92+12G>A
ENST00000485743.1:n.143+12G>A
ENST00000633227.1:c.76+28G>A ENSP00000488004.1:n.76+28G>A
NM_000518.4:c.92+12G>A NP_000509.1:n.92+12G>A
NM_000518.5:c.92+12G>A MANE Select NP_000509.1:n.92+12G>A
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