Canonical Allele Identifier: CA125395
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15525
ClinVar RCV Id: RCV000016789 RCV000508224
dbSNP Id: rs33914944
ExAC: 11:5247807 C / G
gnomAD v2: 11-5247807-C-G
gnomAD v4: 11-5226577-C-G
MyVariant Identifiers: chr11:g.5247807C>G (hg19) chr11:g.5226577C>G (hg38)
PubMed: PMID:1138922 PMID:1511986 PMID:1814857 PMID:2283301 PMID:2606725 PMID:8811319 PMID:15049942 PMID:19429541 PMID:22392582
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226577C>G , CM000673.2:g.5226577C>G GRCh38
NC_000011.9:g.5247807C>G , CM000673.1:g.5247807C>G GRCh37
NC_000011.8:g.5204383C>G NCBI36
NG_000007.3:g.71039G>C
NG_059281.1:g.5495G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.315G>C ENSP00000494175.1:p.Arg105Ser
ENST00000335295.4:c.315G>C MANE Select ENSP00000333994.3:p.Arg105Ser
ENST00000475226.1:n.247G>C
ENST00000485743.1:n.366G>C
ENST00000633227.1:c.*131G>C ENSP00000488004.1:n.*131G>C
NM_000518.4:c.315G>C NP_000509.1:p.Arg105Ser
NM_000518.5:c.315G>C MANE Select NP_000509.1:p.Arg105Ser
Search 100 bp 5'
Search 100 bp 3'