Canonical Allele Identifier: CA125227

Gene: HBB

Linked Data

• ClinVar Variation Id: 15385
• ClinVar RCV Id: RCV000016637 ; RCV000506551 ; RCV001277082 ; RCV003476898
• dbSNP Id: rs33935383
• ExAC: 11:5246901 G / A
• gnomAD v2: 11-5246901-G-A
• gnomAD v4: 11-5225671-G-A
• MyVariant Identifiers: chr11:g.5246901G>A (hg19) ; chr11:g.5225671G>A (hg38)
• PubMed: PMID:2816924 ; PMID:11300351

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225671G>A , CM000673.2:g.5225671G>A	GRCh38
NC_000011.9:g.5246901G>A , CM000673.1:g.5246901G>A	GRCh37
NC_000011.8:g.5203477G>A	NCBI36
NG_000007.3:g.71945C>T
NG_059281.1:g.6401C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.371C>T	ENSP00000494175.1:p.Thr124Ile
ENST00000335295.4:c.371C>T MANE Select	ENSP00000333994.3:p.Thr124Ile
ENST00000475226.1:n.303C>T
ENST00000633227.1:c.*187C>T	ENSP00000488004.1:n.*187C>T
NM_000518.4:c.371C>T	NP_000509.1:p.Thr124Ile
NM_000518.5:c.371C>T MANE Select	NP_000509.1:p.Thr124Ile