Canonical Allele Identifier: CA597436124
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 619861
ClinVar RCV Id: RCV000759807
dbSNP Id: rs1428777319
gnomAD v2: 11-5248043-A-G
gnomAD v4: 11-5226813-A-G
MyVariant Identifiers: chr11:g.5248043A>G (hg19) chr11:g.5226813A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226813A>G , CM000673.2:g.5226813A>G GRCh38
NC_000011.9:g.5248043A>G , CM000673.1:g.5248043A>G GRCh37
NC_000011.8:g.5204619A>G NCBI36
NG_000007.3:g.70803T>C
NG_059281.1:g.5259T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.93-14T>C ENSP00000494175.1:n.93-14T>C
ENST00000335295.4:c.93-14T>C MANE Select ENSP00000333994.3:n.93-14T>C
ENST00000380315.2:c.93-14T>C ENSP00000369671.2:n.93-14T>C
ENST00000475226.1:n.11T>C
ENST00000485743.1:n.144-14T>C
ENST00000633227.1:c.77-14T>C ENSP00000488004.1:n.77-14T>C
NM_000518.4:c.93-14T>C NP_000509.1:n.93-14T>C
NM_000518.5:c.93-14T>C MANE Select NP_000509.1:n.93-14T>C
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