Canonical Allele Identifier: CA2548370179
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1663300
ClinVar RCV Id: RCV002188433
dbSNP Id: rs2133587399
gnomAD v4: 11-5226377-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226377G>A , CM000673.2:g.5226377G>A GRCh38
NC_000011.9:g.5247607G>A , CM000673.1:g.5247607G>A GRCh37
NC_000011.8:g.5204183G>A NCBI36
NG_000007.3:g.71239C>T
NG_059281.1:g.5695C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.315+200C>T ENSP00000494175.1:n.315+200C>T
ENST00000335295.4:c.315+200C>T MANE Select ENSP00000333994.3:n.315+200C>T
ENST00000475226.1:n.247+200C>T
ENST00000485743.1:n.566C>T
ENST00000633227.1:c.*131+200C>T ENSP00000488004.1:n.*131+200C>T
NM_000518.4:c.315+200C>T NP_000509.1:n.315+200C>T
NM_000518.5:c.315+200C>T MANE Select NP_000509.1:n.315+200C>T
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