Canonical Allele Identifier: CA125237
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15390
ClinVar RCV Id: RCV000016643 RCV000641622
dbSNP Id: rs33951978
MyVariant Identifiers: chr11:g.5247829T>A (hg19) chr11:g.5226599T>A (hg38)
PubMed: PMID:1164511
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226599T>A , CM000673.2:g.5226599T>A GRCh38
NC_000011.9:g.5247829T>A , CM000673.1:g.5247829T>A GRCh37
NC_000011.8:g.5204405T>A NCBI36
NG_000007.3:g.71017A>T
NG_059281.1:g.5473A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.293A>T ENSP00000494175.1:p.His98Leu
ENST00000335295.4:c.293A>T MANE Select ENSP00000333994.3:p.His98Leu
ENST00000475226.1:n.225A>T
ENST00000485743.1:n.344A>T
ENST00000633227.1:c.*109A>T ENSP00000488004.1:n.*109A>T
NM_000518.4:c.293A>T NP_000509.1:p.His98Leu
NM_000518.5:c.293A>T MANE Select NP_000509.1:p.His98Leu
Search 100 bp 5'
Search 100 bp 3'