Canonical Allele Identifier: CA124722
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15095
ClinVar RCV Id: RCV000016248
dbSNP Id: rs35492035
MyVariant Identifiers: chr11:g.5246866C>G (hg19) chr11:g.5225636C>G (hg38)
PubMed: PMID:1261680
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225636C>G , CM000673.2:g.5225636C>G GRCh38
NC_000011.9:g.5246866C>G , CM000673.1:g.5246866C>G GRCh37
NC_000011.8:g.5203442C>G NCBI36
NG_000007.3:g.71980G>C
NG_059281.1:g.6436G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.406G>C ENSP00000494175.1:p.Ala136Pro
ENST00000335295.4:c.406G>C MANE Select ENSP00000333994.3:p.Ala136Pro
ENST00000633227.1:c.*222G>C ENSP00000488004.1:n.*222G>C
NM_000518.4:c.406G>C NP_000509.1:p.Ala136Pro
NM_000518.5:c.406G>C MANE Select NP_000509.1:p.Ala136Pro
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