Linked Data
ClinVar Variation Id:
15010
ClinVar RCV Id:
RCV000016150
dbSNP Id:
rs35700518
gnomAD v2:
11-5270801-A-C
gnomAD v3:
11-5249571-A-C
gnomAD v4:
11-5249571-A-C
PubMed:
PMID:2419280
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5249571A>C , CM000673.2:g.5249571A>C | GRCh38 |
| NC_000011.9:g.5270801A>C , CM000673.1:g.5270801A>C | GRCh37 |
| NC_000011.8:g.5227377A>C | NCBI36 |
| NG_000007.3:g.48045T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000330597.5:c.112T>G (HBG1) MANE Select | ENSP00000327431.4:p.Trp38Gly | |
| ENST00000642908.1:c.316-1084T>G | ENSP00000495346.1:n.316-1084T>G | |
| ENST00000647543.1:c.379-1084T>G | ENSP00000496470.1:n.379-1084T>G | |
| ENST00000648735.1:n.163T>G (HBG1) | ||
| ENST00000330597.3:c.112T>G (HBG1) | ENSP00000327431.3:p.Trp38Gly | |
| ENST00000620888.4:c.316-1084T>G (HBG2) | ENSP00000479637.1:n.316-1084T>G | |
| ENST00000623781.1:c.243A>C | ENSP00000485381.1:p.Pro81= | |
| ENST00000632727.1:c.74T>G (HBG1) | ENSP00000488759.1:p.Met25Arg | |
| NM_000559.2:c.112T>G (HBG1) | NP_000550.2:p.Trp38Gly | |
| NM_000559.3:c.112T>G (HBG1) MANE Select | NP_000550.2:p.Trp38Gly |