Canonical Allele Identifier: CA379274598
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 869263
ClinVar RCV Id: RCV001078305
dbSNP Id: rs33982568
MyVariant Identifiers: chr11:g.5248014G>C (hg19) chr11:g.5226784G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226784G>C , CM000673.2:g.5226784G>C GRCh38
NC_000011.9:g.5248014G>C , CM000673.1:g.5248014G>C GRCh37
NC_000011.8:g.5204590G>C NCBI36
NG_000007.3:g.70832C>G
NG_059281.1:g.5288C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.108C>G ENSP00000494175.1:p.Tyr36Ter
ENST00000335295.4:c.108C>G MANE Select ENSP00000333994.3:p.Tyr36Ter
ENST00000380315.2:c.108C>G ENSP00000369671.2:p.Tyr36Ter
ENST00000475226.1:n.40C>G
ENST00000485743.1:n.159C>G
ENST00000633227.1:c.92C>G ENSP00000488004.1:p.Thr31Ser
NM_000518.4:c.108C>G NP_000509.1:p.Tyr36Ter
NM_000518.5:c.108C>G MANE Select NP_000509.1:p.Tyr36Ter
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