Canonical Allele Identifier: CA125490
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15584
ClinVar RCV Id: RCV000016851 RCV001563767 RCV001778656 RCV002482877
dbSNP Id: rs33935383
ExAC: 11:5246901 G / T
gnomAD v2: 11-5246901-G-T
gnomAD v3: 11-5225671-G-T
gnomAD v4: 11-5225671-G-T
MyVariant Identifiers: chr11:g.5246901G>T (hg19) chr11:g.5225671G>T (hg38)
PubMed: PMID:11186258
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225671G>T , CM000673.2:g.5225671G>T GRCh38
NC_000011.9:g.5246901G>T , CM000673.1:g.5246901G>T GRCh37
NC_000011.8:g.5203477G>T NCBI36
NG_000007.3:g.71945C>A
NG_059281.1:g.6401C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.371C>A ENSP00000494175.1:p.Thr124Asn
ENST00000335295.4:c.371C>A MANE Select ENSP00000333994.3:p.Thr124Asn
ENST00000475226.1:n.303C>A
ENST00000633227.1:c.*187C>A ENSP00000488004.1:n.*187C>A
NM_000518.4:c.371C>A NP_000509.1:p.Thr124Asn
NM_000518.5:c.371C>A MANE Select NP_000509.1:p.Thr124Asn
Search 100 bp 5'
Search 100 bp 3'