Canonical Allele Identifier: CA2573147154
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1673500
ClinVar RCV Id: RCV002204135
dbSNP Id: rs2133587658
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226557C>G , CM000673.2:g.5226557C>G GRCh38
NC_000011.9:g.5247787C>G , CM000673.1:g.5247787C>G GRCh37
NC_000011.8:g.5204363C>G NCBI36
NG_000007.3:g.71059G>C
NG_059281.1:g.5515G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.315+20G>C ENSP00000494175.1:n.315+20G>C
ENST00000335295.4:c.315+20G>C MANE Select ENSP00000333994.3:n.315+20G>C
ENST00000475226.1:n.247+20G>C
ENST00000485743.1:n.386G>C
ENST00000633227.1:c.*131+20G>C ENSP00000488004.1:n.*131+20G>C
NM_000518.4:c.315+20G>C NP_000509.1:n.315+20G>C
NM_000518.5:c.315+20G>C MANE Select NP_000509.1:n.315+20G>C
Search 100 bp 5'
Search 100 bp 3'