Canonical Allele Identifier: CA124592
Gene: HBG1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 15012
ClinVar RCV Id: RCV000016152
dbSNP Id: rs34127117

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5249390T>C , CM000673.2:g.5249390T>C GRCh38
NC_000011.9:g.5270620T>C , CM000673.1:g.5270620T>C GRCh37
NC_000011.8:g.5227196T>C NCBI36
NG_000007.3:g.48226A>G

Transcript Alleles

HGVS Amino-acid change
NM_000559.2:c.293A>G VV NP_000550.2:p.His98Arg
ENST00000330597.3:c.293A>G ENSP00000327431.3:p.His98Arg
ENST00000620888.4:c.316-903A>G ENSP00000479637.1:p.=
ENST00000623781.1:n.62T>C ENSP00000485381.1:p.Met21Thr
ENST00000632727.1:c.*162A>G ENSP00000488759.1:p.=