Canonical Allele Identifier: CA124983
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15239
ClinVar RCV Id: RCV000016439 RCV000016440 RCV000016441 RCV000169609 RCV000780311 RCV001004353 RCV000757368 RCV003992156
dbSNP Id: rs35424040
ExAC: 11:5248170 C / A
gnomAD v2: 11-5248170-C-A
gnomAD v3: 11-5226940-C-A
gnomAD v4: 11-5226940-C-A
MyVariant Identifiers: chr11:g.5248170C>A (hg19) chr11:g.5226940C>A (hg38)
PubMed: PMID:2291577 PMID:2467892 PMID:3114175 PMID:6469698 PMID:6668188 PMID:6733281 PMID:7104238 PMID:7852087 PMID:9340427 PMID:17949282 PMID:19429541 PMID:20301599 PMID:23321370 PMID:25087612
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226940C>A , CM000673.2:g.5226940C>A GRCh38
NC_000011.9:g.5248170C>A , CM000673.1:g.5248170C>A GRCh37
NC_000011.8:g.5204746C>A NCBI36
NG_000007.3:g.70676G>T
NG_059281.1:g.5132G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.82G>T ENSP00000494175.1:p.Ala28Ser
ENST00000335295.4:c.82G>T MANE Select ENSP00000333994.3:p.Ala28Ser
ENST00000380315.2:c.82G>T ENSP00000369671.2:p.Ala28Ser
ENST00000485743.1:n.133G>T
ENST00000633227.1:c.76+6G>T ENSP00000488004.1:n.76+6G>T
NM_000518.4:c.82G>T NP_000509.1:p.Ala28Ser
NM_000518.5:c.82G>T MANE Select NP_000509.1:p.Ala28Ser
Search 100 bp 5'
Search 100 bp 3'