Linked Data
ClinVar Variation Id:
1153438
ClinVar RCV Id:
RCV001495097
dbSNP Id:
rs746604322
ExAC:
8:77896088 A / G
gnomAD v2:
8-77896088-A-G
gnomAD v4:
8-76983852-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.76983852A>G , CM000670.2:g.76983852A>G | GRCh38 |
| NC_000008.10:g.77896088A>G , CM000670.1:g.77896088A>G | GRCh37 |
| NC_000008.9:g.78058643A>G | NCBI36 |
| NG_008371.1:g.21437T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357039.9:c.327T>C MANE Select | ENSP00000349543.4:p.Cys109= | |
| ENST00000357039.8:c.327T>C | ENSP00000349543.4:p.Cys109= | |
| ENST00000518986.5:c.327T>C | ENSP00000429304.1:p.Cys109= | |
| ENST00000520103.5:c.327T>C | ENSP00000428590.1:p.Cys109= | |
| ENST00000522527.5:c.327T>C | ENSP00000428638.1:p.Cys109= | |
| NM_000318.2:c.327T>C | NP_000309.1:p.Cys109= | |
| NM_001079867.1:c.327T>C | NP_001073336.1:p.Cys109= | |
| NM_001172086.1:c.327T>C | NP_001165557.1:p.Cys109= | |
| NM_001172087.1:c.327T>C | NP_001165558.1:p.Cys109= | |
| NM_000318.3:c.327T>C MANE Select | NP_000309.2:p.Cys109= | |
| NM_001079867.2:c.327T>C | NP_001073336.2:p.Cys109= | |
| NM_001172086.2:c.327T>C | NP_001165557.2:p.Cys109= | |
| NM_001172087.2:c.327T>C | NP_001165558.2:p.Cys109= |