Canonical Allele Identifier: CA2573147164
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1537117
ClinVar RCV Id: RCV002157065
dbSNP Id: rs2133589046
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226881C>T , CM000673.2:g.5226881C>T GRCh38
NC_000011.9:g.5248111C>T , CM000673.1:g.5248111C>T GRCh37
NC_000011.8:g.5204687C>T NCBI36
NG_000007.3:g.70735G>A
NG_059281.1:g.5191G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.92+49G>A ENSP00000494175.1:n.92+49G>A
ENST00000335295.4:c.92+49G>A MANE Select ENSP00000333994.3:n.92+49G>A
ENST00000380315.2:c.92+49G>A ENSP00000369671.2:n.92+49G>A
ENST00000485743.1:n.143+49G>A
ENST00000633227.1:c.76+65G>A ENSP00000488004.1:n.76+65G>A
NM_000518.4:c.92+49G>A NP_000509.1:n.92+49G>A
NM_000518.5:c.92+49G>A MANE Select NP_000509.1:n.92+49G>A
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