Linked Data
ClinVar Variation Id:
2161468
ClinVar RCV Id:
RCV003089513
dbSNP Id:
rs995161736
gnomAD v2:
8-77895831-A-G
gnomAD v3:
8-76983595-A-G
gnomAD v4:
8-76983595-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.76983595A>G , CM000670.2:g.76983595A>G | GRCh38 |
| NC_000008.10:g.77895831A>G , CM000670.1:g.77895831A>G | GRCh37 |
| NC_000008.9:g.78058386A>G | NCBI36 |
| NG_008371.1:g.21694T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357039.9:c.584T>C MANE Select | ENSP00000349543.4:p.Leu195Pro | |
| ENST00000357039.8:c.584T>C | ENSP00000349543.4:p.Leu195Pro | |
| ENST00000520103.5:c.584T>C | ENSP00000428590.1:p.Leu195Pro | |
| ENST00000522527.5:c.584T>C | ENSP00000428638.1:p.Leu195Pro | |
| NM_000318.2:c.584T>C | NP_000309.1:p.Leu195Pro | |
| NM_001079867.1:c.584T>C | NP_001073336.1:p.Leu195Pro | |
| NM_001172086.1:c.584T>C | NP_001165557.1:p.Leu195Pro | |
| NM_001172087.1:c.584T>C | NP_001165558.1:p.Leu195Pro | |
| NM_000318.3:c.584T>C MANE Select | NP_000309.2:p.Leu195Pro | |
| NM_001079867.2:c.584T>C | NP_001073336.2:p.Leu195Pro | |
| NM_001172086.2:c.584T>C | NP_001165557.2:p.Leu195Pro | |
| NM_001172087.2:c.584T>C | NP_001165558.2:p.Leu195Pro |