Canonical Allele Identifier: CA2739276172
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 2783192
ClinVar RCV Id: RCV003665906
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226804G>C , CM000673.2:g.5226804G>C GRCh38
NC_000011.9:g.5248034G>C , CM000673.1:g.5248034G>C GRCh37
NC_000011.8:g.5204610G>C NCBI36
NG_000007.3:g.70812C>G
NG_059281.1:g.5268C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.93-5C>G ENSP00000494175.1:n.93-5C>G
ENST00000335295.4:c.93-5C>G MANE Select ENSP00000333994.3:n.93-5C>G
ENST00000380315.2:c.93-5C>G ENSP00000369671.2:n.93-5C>G
ENST00000475226.1:n.20C>G
ENST00000485743.1:n.144-5C>G
ENST00000633227.1:c.77-5C>G ENSP00000488004.1:n.77-5C>G
NM_000518.4:c.93-5C>G NP_000509.1:n.93-5C>G
NM_000518.5:c.93-5C>G MANE Select NP_000509.1:n.93-5C>G
Search 100 bp 5'
Search 100 bp 3'