Canonical Allele Identifier: CA124728
Gene: HBB HGNC NCBI
ClinVar RCV:
RCV000016252
RCV000756230
RCV002265556
ClinVar Variation:
15099
dbSNP:
34831026
gnomAD v2:
11:5248000 C / T
gnomAD v3:
11:5226770 C / T
gnomAD v4:
chr11-5226770-C-T
Joint Max Group AF 0.00001962 (NFE)
Exomes Max Group AF 0.00001998 (NFE)
MyVariant.info:
GRCh38 chr11:g.5226770C>T
GRCh37 chr11:g.5248000C>T
Revel Score:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226770C>T , CM000673.2:g.5226770C>T GRCh38
NC_000011.9:g.5248000C>T , CM000673.1:g.5248000C>T GRCh37
NC_000011.8:g.5204576C>T NCBI36
NG_000007.3:g.70846G>A
NG_059281.1:g.5302G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.122G>A ENSP00000494175.1:p.Arg41Lys
ENST00000335295.4:c.122G>A MANE Select ENSP00000333994.3:p.Arg41Lys
ENST00000380315.2:c.122G>A ENSP00000369671.2:p.Arg41Lys
ENST00000475226.1:n.54G>A
ENST00000485743.1:n.173G>A
ENST00000633227.1:c.106G>A ENSP00000488004.1:p.Gly36Ser
NM_000518.4:c.122G>A NP_000509.1:p.Arg41Lys
NM_000518.5:c.122G>A MANE Select NP_000509.1:p.Arg41Lys
Search 100 bp 5'
Search 100 bp 3'