Linked Data
ClinVar Variation Id:
2374067
ClinVar RCV Id:
RCV004215102
dbSNP Id:
rs1439917334
gnomAD v2:
10-69991217-T-C
gnomAD v4:
10-68231460-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68231460T>C , CM000672.2:g.68231460T>C | GRCh38 |
| NC_000010.10:g.69991217T>C , CM000672.1:g.69991217T>C | GRCh37 |
| NC_000010.9:g.69661223T>C | NCBI36 |
| NG_031934.1:g.5654A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373673.5:c.218A>G MANE Select | ENSP00000362777.3:p.Asp73Gly | |
| ENST00000373673.4:c.218A>G | ENSP00000362777.3:p.Asp73Gly | |
| NM_145178.3:c.218A>G | NP_660161.1:p.Asp73Gly | |
| NM_145178.4:c.218A>G MANE Select | NP_660161.1:p.Asp73Gly |