Linked Data
ClinVar Variation Id:
343111
ClinVar RCV Id:
RCV000398948
dbSNP Id:
rs142582404
gnomAD v2:
3-128198633-T-C
gnomAD v3:
3-128479790-T-C
gnomAD v4:
3-128479790-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128479790T>C , CM000665.2:g.128479790T>C | GRCh38 |
| NC_000003.11:g.128198633T>C , CM000665.1:g.128198633T>C | GRCh37 |
| NC_000003.10:g.129681323T>C | NCBI36 |
| NG_029334.1:g.18398A>G , LRG_295:g.18398A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000487848.6:c.*1229A>G MANE Plus Clinical | ENSP00000417074.1:n.*1229A>G | |
| ENST00000696466.1:c.*1229A>G | ENSP00000512647.1:n.*1229A>G | |
| ENST00000696672.1:c.1647A>G | ENSP00000512796.1:n.1647A>G | |
| ENST00000341105.7:c.*1229A>G MANE Select | ENSP00000345681.2:n.*1229A>G | |
| ENST00000341105.6:c.*1229A>G | ENSP00000345681.2:n.*1229A>G | |
| NM_001145661.1:c.*1229A>G , LRG_295t1:c.*1229A>G | NP_001139133.1:n.*1229A>G | |
| NM_001145662.1:c.*1229A>G | NP_001139134.1:n.*1229A>G | |
| NM_032638.4:c.*1229A>G , LRG_295t2:c.*1229A>G | NP_116027.2:n.*1229A>G | |
| NM_001145661.2:c.*1229A>G MANE Plus Clinical | NP_001139133.1:n.*1229A>G | |
| NM_032638.5:c.*1229A>G MANE Select | NP_116027.2:n.*1229A>G |