Linked Data
ClinVar Variation Id:
2591511
ClinVar RCV Id:
RCV004337308
dbSNP Id:
rs747232605
ExAC:
10:96540388 T / G
gnomAD v2:
10-96540388-T-G
gnomAD v3:
10-94780631-T-G
gnomAD v4:
10-94780631-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94780631T>G , CM000672.2:g.94780631T>G | GRCh38 |
| NC_000010.10:g.96540388T>G , CM000672.1:g.96540388T>G | GRCh37 |
| NC_000010.9:g.96530378T>G | NCBI36 |
| NG_008384.2:g.22926T>G | |
| NG_008384.3:g.22951T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.614T>G MANE Select | ENSP00000360372.3:p.Ile205Ser | |
| ENST00000645461.1:n.1667T>G | ||
| ENST00000371321.7:c.614T>G | ENSP00000360372.3:p.Ile205Ser | |
| ENST00000464755.1:c.1377T>G | ENSP00000483243.1:n.1377T>G | |
| NM_000769.2:c.614T>G | NP_000760.1:p.Ile205Ser | |
| NM_000769.4:c.614T>G MANE Select | NP_000760.1:p.Ile205Ser |