Canonical Allele Identifier: CA472638428
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1321374
ClinVar RCV Id: RCV001779468 RCV002541102
dbSNP Id: rs780307221
gnomAD v4: 11-5225670-G-T
MyVariant Identifiers: chr11:g.5246900G>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225670G>T , CM000673.2:g.5225670G>T GRCh38
NC_000011.9:g.5246900G>T , CM000673.1:g.5246900G>T GRCh37
NC_000011.8:g.5203476G>T NCBI36
NG_000007.3:g.71946C>A
NG_059281.1:g.6402C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.372C>A ENSP00000494175.1:p.Thr124=
ENST00000335295.4:c.372C>A MANE Select ENSP00000333994.3:p.Thr124=
ENST00000475226.1:n.304C>A
ENST00000633227.1:c.*188C>A ENSP00000488004.1:n.*188C>A
NM_000518.4:c.372C>A NP_000509.1:p.Thr124=
NM_000518.5:c.372C>A MANE Select NP_000509.1:p.Thr124=
Search 100 bp 5'
Search 100 bp 3'