Canonical Allele Identifier: CA2499221060
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1158961
ClinVar RCV Id: RCV001502553
dbSNP Id: rs2133587453
gnomAD v4: 11-5226412-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226412C>T , CM000673.2:g.5226412C>T GRCh38
NC_000011.9:g.5247642C>T , CM000673.1:g.5247642C>T GRCh37
NC_000011.8:g.5204218C>T NCBI36
NG_000007.3:g.71204G>A
NG_059281.1:g.5660G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.315+165G>A ENSP00000494175.1:n.315+165G>A
ENST00000335295.4:c.315+165G>A MANE Select ENSP00000333994.3:n.315+165G>A
ENST00000475226.1:n.247+165G>A
ENST00000485743.1:n.531G>A
ENST00000633227.1:c.*131+165G>A ENSP00000488004.1:n.*131+165G>A
NM_000518.4:c.315+165G>A NP_000509.1:n.315+165G>A
NM_000518.5:c.315+165G>A MANE Select NP_000509.1:n.315+165G>A
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