Linked Data
ClinVar Variation Id:
1406067
ClinVar RCV Id:
RCV001915647
dbSNP Id:
rs1180720095
gnomAD v2:
8-77896209-A-G
gnomAD v4:
8-76983973-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.76983973A>G , CM000670.2:g.76983973A>G | GRCh38 |
| NC_000008.10:g.77896209A>G , CM000670.1:g.77896209A>G | GRCh37 |
| NC_000008.9:g.78058764A>G | NCBI36 |
| NG_008371.1:g.21316T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357039.9:c.206T>C MANE Select | ENSP00000349543.4:p.Ile69Thr | |
| ENST00000357039.8:c.206T>C | ENSP00000349543.4:p.Ile69Thr | |
| ENST00000518986.5:c.206T>C | ENSP00000429304.1:p.Ile69Thr | |
| ENST00000520103.5:c.206T>C | ENSP00000428590.1:p.Ile69Thr | |
| ENST00000522527.5:c.206T>C | ENSP00000428638.1:p.Ile69Thr | |
| NM_000318.2:c.206T>C | NP_000309.1:p.Ile69Thr | |
| NM_001079867.1:c.206T>C | NP_001073336.1:p.Ile69Thr | |
| NM_001172086.1:c.206T>C | NP_001165557.1:p.Ile69Thr | |
| NM_001172087.1:c.206T>C | NP_001165558.1:p.Ile69Thr | |
| NM_000318.3:c.206T>C MANE Select | NP_000309.2:p.Ile69Thr | |
| NM_001079867.2:c.206T>C | NP_001073336.2:p.Ile69Thr | |
| NM_001172086.2:c.206T>C | NP_001165557.2:p.Ile69Thr | |
| NM_001172087.2:c.206T>C | NP_001165558.2:p.Ile69Thr |