Canonical Allele Identifier: CA037973
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 446746
ClinVar RCV Id: RCV000016863
PubMed: PMID:11939508
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.[5225678C>T;5226988C>T] , CM000673.2:g.[5225678C>T;5226988C>T] GRCh38
NC_000011.9:g.[5246908C>T;5248218C>T] , CM000673.1:g.[5246908C>T;5248218C>T] GRCh37
NC_000011.8:g.[5203484C>T;5204794C>T] NCBI36
NG_000007.3:g.[70628G>A;71938G>A]
NG_059281.1:g.[5084G>A;6394G>A]

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.[34G>A;364G>A] ENSP00000494175.1:p.[Val12Ile;Glu122Lys]
ENST00000335295.4:c.[34G>A;364G>A] MANE Select ENSP00000333994.3:p.[Val12Ile;Glu122Lys]
ENST00000633227.1:c.[34G>A;*180G>A] ENSP00000488004.1:[p.Val12Ile;n.*180G>A]
NM_000518.4:c.[34G>A;364G>A] NP_000509.1:p.[Val12Ile;Glu122Lys]
NM_000518.5:c.[34G>A;364G>A] MANE Select NP_000509.1:p.[Val12Ile;Glu122Lys]
Search 100 bp 5'
Search 100 bp 3'