Canonical Allele Identifier: CA124824
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15152
ClinVar RCV Id: RCV000016317 RCV000029994 RCV000202465 RCV000723826 RCV000778329 RCV001175348 RCV002247348
dbSNP Id: rs33946267
ExAC: 11:5246908 C / G
gnomAD v2: 11-5246908-C-G
gnomAD v3: 11-5225678-C-G
gnomAD v4: 11-5225678-C-G
MyVariant Identifiers: chr11:g.5246908C>G (hg19) chr11:g.5225678C>G (hg38)
PubMed: PMID:750553 PMID:1177278 PMID:2079437 PMID:2887538 PMID:2895770 PMID:3557993 PMID:3557998 PMID:4078867 PMID:4991321 PMID:5050915 PMID:5672850 PMID:6322284 PMID:7338475 PMID:12403491 PMID:13590135 PMID:13872094 PMID:14160125 PMID:20301551 PMID:22028795 PMID:23891399 PMID:24616059 PMID:25666204
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225678C>G , CM000673.2:g.5225678C>G GRCh38
NC_000011.9:g.5246908C>G , CM000673.1:g.5246908C>G GRCh37
NC_000011.8:g.5203484C>G NCBI36
NG_000007.3:g.71938G>C
NG_059281.1:g.6394G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.364G>C ENSP00000494175.1:p.Glu122Gln
ENST00000335295.4:c.364G>C MANE Select ENSP00000333994.3:p.Glu122Gln
ENST00000475226.1:n.296G>C
ENST00000633227.1:c.*180G>C ENSP00000488004.1:n.*180G>C
NM_000518.4:c.364G>C NP_000509.1:p.Glu122Gln
NM_000518.5:c.364G>C MANE Select NP_000509.1:p.Glu122Gln
Search 100 bp 5'
Search 100 bp 3'