Canonical Allele Identifier: CA2573147165
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1608900
ClinVar RCV Id: RCV002149899
dbSNP Id: rs1847578084
gnomAD v4: 11-5226906-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226906C>G , CM000673.2:g.5226906C>G GRCh38
NC_000011.9:g.5248136C>G , CM000673.1:g.5248136C>G GRCh37
NC_000011.8:g.5204712C>G NCBI36
NG_000007.3:g.70710G>C
NG_059281.1:g.5166G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.92+24G>C ENSP00000494175.1:n.92+24G>C
ENST00000335295.4:c.92+24G>C MANE Select ENSP00000333994.3:n.92+24G>C
ENST00000380315.2:c.92+24G>C ENSP00000369671.2:n.92+24G>C
ENST00000485743.1:n.143+24G>C
ENST00000633227.1:c.76+40G>C ENSP00000488004.1:n.76+40G>C
NM_000518.4:c.92+24G>C NP_000509.1:n.92+24G>C
NM_000518.5:c.92+24G>C MANE Select NP_000509.1:n.92+24G>C
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