Linked Data
ClinVar Variation Id:
429966
dbSNP Id:
rs201672517
gnomAD v2:
12-13906582-T-C
gnomAD v3:
12-13753648-T-C
gnomAD v4:
12-13753648-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13753648T>C , CM000674.2:g.13753648T>C | GRCh38 |
| NC_000012.11:g.13906582T>C , CM000674.1:g.13906582T>C | GRCh37 |
| NC_000012.10:g.13797849T>C | NCBI36 |
| NG_031854.1:g.231441A>G | |
| NG_031854.2:g.233365A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609686.4:c.679A>G MANE Select | ENSP00000477455.1:p.Ile227Val | |
| ENST00000630791.2:c.679A>G | ENSP00000486677.2:p.Ile227Val | |
| ENST00000609686.3:c.679A>G | ENSP00000477455.1:p.Ile227Val | |
| NM_000834.3:c.679A>G | NP_000825.2:p.Ile227Val | |
| XM_011520628.1:c.679A>G | XP_011518930.1:p.Ile227Val | |
| XM_011520629.1:c.679A>G | XP_011518931.1:p.Ile227Val | |
| XM_011520630.1:c.679A>G | XP_011518932.1:p.Ile227Val | |
| NM_000834.4:c.679A>G | NP_000825.2:p.Ile227Val | |
| XM_011520628.2:c.679A>G | XP_011518930.1:p.Ile227Val | |
| XM_011520629.2:c.679A>G | XP_011518931.1:p.Ile227Val | |
| XM_017019219.2:c.679A>G | XP_016874708.1:p.Ile227Val | |
| NM_000834.5:c.679A>G MANE Select | NP_000825.2:p.Ile227Val |