Linked Data
ClinVar Variation Id:
15027
ClinVar RCV Id:
RCV000016168
dbSNP Id:
rs33965337
PubMed:
PMID:2448269
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5249463C>G , CM000673.2:g.5249463C>G | GRCh38 |
| NC_000011.9:g.5270693C>G , CM000673.1:g.5270693C>G | GRCh37 |
| NC_000011.8:g.5227269C>G | NCBI36 |
| NG_000007.3:g.48153G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330597.5:c.220G>C (HBG1) MANE Select | ENSP00000327431.4:p.Asp74His | |
| ENST00000642908.1:c.316-976G>C | ENSP00000495346.1:n.316-976G>C | |
| ENST00000647543.1:c.379-976G>C | ENSP00000496470.1:n.379-976G>C | |
| ENST00000648735.1:n.271G>C (HBG1) | ||
| ENST00000330597.3:c.220G>C (HBG1) | ENSP00000327431.3:p.Asp74His | |
| ENST00000620888.4:c.316-976G>C (HBG2) | ENSP00000479637.1:n.316-976G>C | |
| ENST00000623781.1:c.135C>G | ENSP00000485381.1:p.Ile45Met | |
| ENST00000632727.1:c.*89G>C (HBG1) | ENSP00000488759.1:n.*89G>C | |
| NM_000559.2:c.220G>C (HBG1) | NP_000550.2:p.Asp74His | |
| NM_000559.3:c.220G>C (HBG1) MANE Select | NP_000550.2:p.Asp74His |