Canonical Allele Identifier: CA124740

Gene: HBB

Linked Data

• ClinVar Variation Id: 15106
• ClinVar RCV Id: RCV000016260 ; RCV001284157 ; RCV001778654
• dbSNP Id: rs33925391
• ExAC: 11:5246892 A / G
• gnomAD v2: 11-5246892-A-G
• gnomAD v3: 11-5225662-A-G
• gnomAD v4: 11-5225662-A-G
• MyVariant Identifiers: chr11:g.5246892A>G (hg19) ; chr11:g.5225662A>G (hg38)
• PubMed: PMID:3557996 ; PMID:6879181

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225662A>G , CM000673.2:g.5225662A>G	GRCh38
NC_000011.9:g.5246892A>G , CM000673.1:g.5246892A>G	GRCh37
NC_000011.8:g.5203468A>G	NCBI36
NG_000007.3:g.71954T>C
NG_059281.1:g.6410T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.380T>C	ENSP00000494175.1:p.Val127Ala
ENST00000335295.4:c.380T>C MANE Select	ENSP00000333994.3:p.Val127Ala
ENST00000475226.1:n.312T>C
ENST00000633227.1:c.*196T>C	ENSP00000488004.1:n.*196T>C
NM_000518.4:c.380T>C	NP_000509.1:p.Val127Ala
NM_000518.5:c.380T>C MANE Select	NP_000509.1:p.Val127Ala