Linked Data
ClinVar Variation Id:
1475147
ClinVar RCV Id:
RCV001973904
dbSNP Id:
rs1198341225
gnomAD v2:
10-69991185-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68231428T>C , CM000672.2:g.68231428T>C | GRCh38 |
| NC_000010.10:g.69991185T>C , CM000672.1:g.69991185T>C | GRCh37 |
| NC_000010.9:g.69661191T>C | NCBI36 |
| NG_031934.1:g.5686A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373673.5:c.250A>G MANE Select | ENSP00000362777.3:p.Met84Val | |
| ENST00000373673.4:c.250A>G | ENSP00000362777.3:p.Met84Val | |
| NM_145178.3:c.250A>G | NP_660161.1:p.Met84Val | |
| NM_145178.4:c.250A>G MANE Select | NP_660161.1:p.Met84Val |