Canonical Allele Identifier: CA125054
Gene: HBB HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.5225650T>G
GRCh37 chr11:g.5246880T>G
Revel Score:
ENST00000335295 (MANE Select) 0.520
ClinVar RCV:
RCV000016514
ClinVar Variation:
15284
dbSNP:
33937535
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225650T>G , CM000673.2:g.5225650T>G GRCh38
NC_000011.9:g.5246880T>G , CM000673.1:g.5246880T>G GRCh37
NC_000011.8:g.5203456T>G NCBI36
NG_000007.3:g.71966A>C
NG_059281.1:g.6422A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.392A>C ENSP00000494175.1:p.Tyr131Ser
ENST00000335295.4:c.392A>C MANE Select ENSP00000333994.3:p.Tyr131Ser
ENST00000633227.1:c.*208A>C ENSP00000488004.1:n.*208A>C
NM_000518.4:c.392A>C NP_000509.1:p.Tyr131Ser
NM_000518.5:c.392A>C MANE Select NP_000509.1:p.Tyr131Ser
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