Linked Data
dbSNP Id:
rs778172072
ExAC:
11:5270749 A / G
gnomAD v2:
11-5270749-A-G
gnomAD v4:
11-5249519-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5249519A>G , CM000673.2:g.5249519A>G | GRCh38 |
| NC_000011.9:g.5270749A>G , CM000673.1:g.5270749A>G | GRCh37 |
| NC_000011.8:g.5227325A>G | NCBI36 |
| NG_000007.3:g.48097T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330597.5:c.164T>C (HBG1) MANE Select | ENSP00000327431.4:p.Ile55Thr | |
| ENST00000642908.1:c.316-1032T>C | ENSP00000495346.1:n.316-1032T>C | |
| ENST00000647543.1:c.379-1032T>C | ENSP00000496470.1:n.379-1032T>C | |
| ENST00000648735.1:n.215T>C (HBG1) | ||
| ENST00000330597.3:c.164T>C (HBG1) | ENSP00000327431.3:p.Ile55Thr | |
| ENST00000620888.4:c.316-1032T>C (HBG2) | ENSP00000479637.1:n.316-1032T>C | |
| ENST00000623781.1:c.191A>G | ENSP00000485381.1:p.Asp64Gly | |
| ENST00000632727.1:c.*33T>C (HBG1) | ENSP00000488759.1:n.*33T>C | |
| NM_000559.2:c.164T>C (HBG1) | NP_000550.2:p.Ile55Thr | |
| NM_000559.3:c.164T>C (HBG1) MANE Select | NP_000550.2:p.Ile55Thr |