Linked Data
ClinVar Variation Id:
15007
ClinVar RCV Id:
RCV000016147
dbSNP Id:
rs35746147
gnomAD v4:
11-5249522-G-T
PubMed:
PMID:2419280
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5249522G>T , CM000673.2:g.5249522G>T | GRCh38 |
| NC_000011.9:g.5270752G>T , CM000673.1:g.5270752G>T | GRCh37 |
| NC_000011.8:g.5227328G>T | NCBI36 |
| NG_000007.3:g.48094C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330597.5:c.161C>A (HBG1) MANE Select | ENSP00000327431.4:p.Ala54Asp | |
| ENST00000642908.1:c.316-1035C>A | ENSP00000495346.1:n.316-1035C>A | |
| ENST00000647543.1:c.379-1035C>A | ENSP00000496470.1:n.379-1035C>A | |
| ENST00000648735.1:n.212C>A (HBG1) | ||
| ENST00000330597.3:c.161C>A (HBG1) | ENSP00000327431.3:p.Ala54Asp | |
| ENST00000620888.4:c.316-1035C>A (HBG2) | ENSP00000479637.1:n.316-1035C>A | |
| ENST00000623781.1:c.194G>T | ENSP00000485381.1:p.Gly65Val | |
| ENST00000632727.1:c.*30C>A (HBG1) | ENSP00000488759.1:n.*30C>A | |
| NM_000559.2:c.161C>A (HBG1) | NP_000550.2:p.Ala54Asp | |
| NM_000559.3:c.161C>A (HBG1) MANE Select | NP_000550.2:p.Ala54Asp |