Canonical Allele Identifier: CA2573147157
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1606913
ClinVar RCV Id: RCV002152258
dbSNP Id: rs35614355
gnomAD v4: 11-5226570-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226570G>A , CM000673.2:g.5226570G>A GRCh38
NC_000011.9:g.5247800G>A , CM000673.1:g.5247800G>A GRCh37
NC_000011.8:g.5204376G>A NCBI36
NG_000007.3:g.71046C>T
NG_059281.1:g.5502C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.315+7C>T ENSP00000494175.1:n.315+7C>T
ENST00000335295.4:c.315+7C>T MANE Select ENSP00000333994.3:n.315+7C>T
ENST00000475226.1:n.247+7C>T
ENST00000485743.1:n.373C>T
ENST00000633227.1:c.*131+7C>T ENSP00000488004.1:n.*131+7C>T
NM_000518.4:c.315+7C>T NP_000509.1:n.315+7C>T
NM_000518.5:c.315+7C>T MANE Select NP_000509.1:n.315+7C>T
Search 100 bp 5'
Search 100 bp 3'