Linked Data
ClinVar Variation Id:
1041518
dbSNP Id:
rs1377041124
gnomAD v3:
3-128485900-A-G
gnomAD v4:
3-128485900-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128485900A>G , CM000665.2:g.128485900A>G | GRCh38 |
| NC_000003.11:g.128204743A>G , CM000665.1:g.128204743A>G | GRCh37 |
| NC_000003.10:g.129687433A>G | NCBI36 |
| NG_029334.1:g.12288T>C , LRG_295:g.12288T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000487848.6:c.698T>C MANE Plus Clinical | ENSP00000417074.1:p.Leu233Pro | |
| ENST00000696466.1:c.980T>C | ENSP00000512647.1:p.Leu327Pro | |
| ENST00000341105.7:c.698T>C MANE Select | ENSP00000345681.2:p.Leu233Pro | |
| ENST00000341105.6:c.698T>C | ENSP00000345681.2:p.Leu233Pro | |
| ENST00000430265.6:c.698T>C | ENSP00000400259.2:p.Leu233Pro | |
| ENST00000487848.5:c.698T>C | ENSP00000417074.1:p.Leu233Pro | |
| NM_001145661.1:c.698T>C , LRG_295t1:c.698T>C | NP_001139133.1:p.Leu233Pro | |
| NM_001145662.1:c.698T>C | NP_001139134.1:p.Leu233Pro | |
| NM_032638.4:c.698T>C , LRG_295t2:c.698T>C | NP_116027.2:p.Leu233Pro | |
| NM_001145661.2:c.698T>C MANE Plus Clinical | NP_001139133.1:p.Leu233Pro | |
| NM_032638.5:c.698T>C MANE Select | NP_116027.2:p.Leu233Pro |