Canonical Allele Identifier: CA125480
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15578
ClinVar RCV Id: RCV000016845 RCV001029750 RCV003886362
dbSNP Id: rs33993004
MyVariant Identifiers: chr11:g.5248012G>T (hg19) chr11:g.5226782G>T (hg38)
PubMed: PMID:10722117 PMID:11939509
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226782G>T , CM000673.2:g.5226782G>T GRCh38
NC_000011.9:g.5248012G>T , CM000673.1:g.5248012G>T GRCh37
NC_000011.8:g.5204588G>T NCBI36
NG_000007.3:g.70834C>A
NG_059281.1:g.5290C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.110C>A ENSP00000494175.1:p.Pro37His
ENST00000335295.4:c.110C>A MANE Select ENSP00000333994.3:p.Pro37His
ENST00000380315.2:c.110C>A ENSP00000369671.2:p.Pro37His
ENST00000475226.1:n.42C>A
ENST00000485743.1:n.161C>A
ENST00000633227.1:c.94C>A ENSP00000488004.1:p.Leu32Ile
NM_000518.4:c.110C>A NP_000509.1:p.Pro37His
NM_000518.5:c.110C>A MANE Select NP_000509.1:p.Pro37His
Search 100 bp 5'
Search 100 bp 3'