Linked Data
dbSNP Id:
rs752995575
ExAC:
11:5270709 C / T
gnomAD v2:
11-5270709-C-T
gnomAD v4:
11-5249479-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5249479C>T , CM000673.2:g.5249479C>T | GRCh38 |
| NC_000011.9:g.5270709C>T , CM000673.1:g.5270709C>T | GRCh37 |
| NC_000011.8:g.5227285C>T | NCBI36 |
| NG_000007.3:g.48137G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330597.5:c.204G>A (HBG1) MANE Select | ENSP00000327431.4:p.Val68= | |
| ENST00000642908.1:c.316-992G>A | ENSP00000495346.1:n.316-992G>A | |
| ENST00000647543.1:c.379-992G>A | ENSP00000496470.1:n.379-992G>A | |
| ENST00000648735.1:n.255G>A (HBG1) | ||
| ENST00000330597.3:c.204G>A (HBG1) | ENSP00000327431.3:p.Val68= | |
| ENST00000620888.4:c.316-992G>A (HBG2) | ENSP00000479637.1:n.316-992G>A | |
| ENST00000623781.1:c.151C>T | ENSP00000485381.1:p.His51Tyr | |
| ENST00000632727.1:c.*73G>A (HBG1) | ENSP00000488759.1:n.*73G>A | |
| NM_000559.2:c.204G>A (HBG1) | NP_000550.2:p.Val68= | |
| NM_000559.3:c.204G>A (HBG1) MANE Select | NP_000550.2:p.Val68= |