Canonical Allele Identifier: CA125484
Gene: HBB HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.5225675A>G
GRCh37 chr11:g.5246905A>G
Revel Score:
ENST00000335295 (MANE Select) 0.810
ClinVar RCV:
RCV000016847
ClinVar Variation:
15580
dbSNP:
33971848
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225675A>G , CM000673.2:g.5225675A>G GRCh38
NC_000011.9:g.5246905A>G , CM000673.1:g.5246905A>G GRCh37
NC_000011.8:g.5203481A>G NCBI36
NG_000007.3:g.71941T>C
NG_059281.1:g.6397T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.367T>C ENSP00000494175.1:p.Phe123Leu
ENST00000335295.4:c.367T>C MANE Select ENSP00000333994.3:p.Phe123Leu
ENST00000475226.1:n.299T>C
ENST00000633227.1:c.*183T>C ENSP00000488004.1:n.*183T>C
NM_000518.4:c.367T>C NP_000509.1:p.Phe123Leu
NM_000518.5:c.367T>C MANE Select NP_000509.1:p.Phe123Leu
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