Canonical Allele Identifier: CA125310
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15447
ClinVar RCV Id: RCV000016705 RCV000020341 RCV000255746 RCV000763253 RCV001004348
dbSNP Id: rs33915217
ExAC: 11:5248155 C / G
gnomAD v2: 11-5248155-C-G
gnomAD v3: 11-5226925-C-G
gnomAD v4: 11-5226925-C-G
MyVariant Identifiers: chr11:g.5248155C>G (hg19) chr11:g.5226925C>G (hg38)
PubMed: PMID:1463768 PMID:2004023 PMID:6188062 PMID:6585831 PMID:6714226 PMID:14576320 PMID:16291734 PMID:18294253 PMID:19000664 PMID:20132300 PMID:20301599 PMID:23234478 PMID:27263053 PMID:27690257
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226925C>G , CM000673.2:g.5226925C>G GRCh38
NC_000011.9:g.5248155C>G , CM000673.1:g.5248155C>G GRCh37
NC_000011.8:g.5204731C>G NCBI36
NG_000007.3:g.70691G>C
NG_059281.1:g.5147G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.92+5G>C ENSP00000494175.1:n.92+5G>C
ENST00000335295.4:c.92+5G>C MANE Select ENSP00000333994.3:n.92+5G>C
ENST00000380315.2:c.92+5G>C ENSP00000369671.2:n.92+5G>C
ENST00000485743.1:n.143+5G>C
ENST00000633227.1:c.76+21G>C ENSP00000488004.1:n.76+21G>C
NM_000518.4:c.92+5G>C NP_000509.1:n.92+5G>C
NM_000518.5:c.92+5G>C MANE Select NP_000509.1:n.92+5G>C
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