Linked Data
ClinVar Variation Id:
954292
ClinVar RCV Id:
RCV001226728
dbSNP Id:
rs866323045
gnomAD v2:
3-128204643-G-T
gnomAD v4:
3-128485800-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128485800G>T , CM000665.2:g.128485800G>T | GRCh38 |
| NC_000003.11:g.128204643G>T , CM000665.1:g.128204643G>T | GRCh37 |
| NC_000003.10:g.129687333G>T | NCBI36 |
| NG_029334.1:g.12388C>A , LRG_295:g.12388C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000487848.6:c.798C>A MANE Plus Clinical | ENSP00000417074.1:p.His266Gln | |
| ENST00000696466.1:c.1080C>A | ENSP00000512647.1:p.His360Gln | |
| ENST00000341105.7:c.798C>A MANE Select | ENSP00000345681.2:p.His266Gln | |
| ENST00000341105.6:c.798C>A | ENSP00000345681.2:p.His266Gln | |
| ENST00000430265.6:c.798C>A | ENSP00000400259.2:p.His266Gln | |
| ENST00000487848.5:c.798C>A | ENSP00000417074.1:p.His266Gln | |
| NM_001145661.1:c.798C>A , LRG_295t1:c.798C>A | NP_001139133.1:p.His266Gln | |
| NM_001145662.1:c.798C>A | NP_001139134.1:p.His266Gln | |
| NM_032638.4:c.798C>A , LRG_295t2:c.798C>A | NP_116027.2:p.His266Gln | |
| NM_001145661.2:c.798C>A MANE Plus Clinical | NP_001139133.1:p.His266Gln | |
| NM_032638.5:c.798C>A MANE Select | NP_116027.2:p.His266Gln |