Linked Data
dbSNP Id:
rs774930728
ExAC:
11:5270566 G / A
gnomAD v2:
11-5270566-G-A
gnomAD v3:
11-5249336-G-A
gnomAD v4:
11-5249336-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5249336G>A , CM000673.2:g.5249336G>A | GRCh38 |
| NC_000011.9:g.5270566G>A , CM000673.1:g.5270566G>A | GRCh37 |
| NC_000011.8:g.5227142G>A | NCBI36 |
| NG_000007.3:g.48280C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330597.5:c.315+32C>T (HBG1) MANE Select | ENSP00000327431.4:n.315+32C>T | |
| ENST00000642908.1:c.316-849C>T | ENSP00000495346.1:n.316-849C>T | |
| ENST00000647543.1:c.379-849C>T | ENSP00000496470.1:n.379-849C>T | |
| ENST00000648735.1:n.398C>T (HBG1) | ||
| ENST00000330597.3:c.315+32C>T (HBG1) | ENSP00000327431.3:n.315+32C>T | |
| ENST00000620888.4:c.316-849C>T (HBG2) | ENSP00000479637.1:n.316-849C>T | |
| ENST00000623781.1:c.43-35G>A | ENSP00000485381.1:n.43-35G>A | |
| ENST00000632727.1:c.*184+32C>T (HBG1) | ENSP00000488759.1:n.*184+32C>T | |
| NM_000559.2:c.315+32C>T (HBG1) | NP_000550.2:n.315+32C>T | |
| NM_000559.3:c.315+32C>T (HBG1) MANE Select | NP_000550.2:n.315+32C>T |