Linked Data
ClinVar Variation Id:
357732
dbSNP Id:
rs376807770
ExAC:
6:65767605 A / G
gnomAD v2:
6-65767605-A-G
gnomAD v3:
6-65057712-A-G
gnomAD v4:
6-65057712-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.65057712A>G , CM000668.2:g.65057712A>G | GRCh38 |
| NC_000006.11:g.65767605A>G , CM000668.1:g.65767605A>G | GRCh37 |
| NC_000006.10:g.65824326A>G | NCBI36 |
| NG_023443.1:g.654514T>C | |
| NG_023443.2:g.654514T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503581.6:c.2039T>C MANE Select | ENSP00000424243.1:p.Ile680Thr | |
| ENST00000370616.6:c.2039T>C | ENSP00000359650.2:p.Ile680Thr | |
| ENST00000370618.7:c.2039T>C | ENSP00000359652.4:p.Ile680Thr | |
| ENST00000370621.7:c.2039T>C | ENSP00000359655.3:p.Ile680Thr | |
| ENST00000503581.5:c.2039T>C | ENSP00000424243.1:p.Ile680Thr | |
| NM_001142800.1:c.2039T>C | NP_001136272.1:p.Ile680Thr | |
| NM_001292009.1:c.2039T>C | NP_001278938.1:p.Ile680Thr | |
| NM_001142800.2:c.2039T>C MANE Select | NP_001136272.1:p.Ile680Thr | |
| NM_001292009.2:c.2039T>C | NP_001278938.1:p.Ile680Thr |