Linked Data
dbSNP Id:
rs201015574
ExAC:
22:19164401 T / C
gnomAD v2:
22-19164401-T-C
gnomAD v3:
22-19176888-T-C
gnomAD v4:
22-19176888-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19176888T>C , CM000684.2:g.19176888T>C | GRCh38 |
| NC_000022.10:g.19164401T>C , CM000684.1:g.19164401T>C | GRCh37 |
| NC_000022.9:g.17544401T>C | NCBI36 |
| NG_033863.1:g.6976A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215882.10:c.589A>G MANE Select | ENSP00000215882.5:p.Ile197Val | |
| ENST00000215882.9:c.589A>G | ENSP00000215882.5:p.Ile197Val | |
| ENST00000451283.5:c.280A>G | ENSP00000401480.1:p.Ile94Val | |
| ENST00000461267.1:n.735A>G | ||
| ENST00000470922.5:n.731A>G | ||
| NM_001256534.1:c.610A>G | NP_001243463.1:p.Ile204Val | |
| NM_001287387.1:c.280A>G | NP_001274316.1:p.Ile94Val | |
| NM_005984.4:c.589A>G | NP_005975.1:p.Ile197Val | |
| NR_046298.2:n.640A>G | ||
| NM_005984.5:c.589A>G MANE Select | NP_005975.1:p.Ile197Val | |
| NM_001256534.2:c.610A>G | NP_001243463.1:p.Ile204Val | |
| NM_001287387.2:c.280A>G | NP_001274316.1:p.Ile94Val | |
| NR_046298.3:n.513A>G |