Linked Data
ClinVar Variation Id:
1356151
ClinVar RCV Id:
RCV001880358
dbSNP Id:
rs2143967235
gnomAD v4:
18-60372115-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.60372115T>C , CM000680.2:g.60372115T>C | GRCh38 |
| NC_000018.9:g.58039348T>C , CM000680.1:g.58039348T>C | GRCh37 |
| NC_000018.8:g.56190328T>C | NCBI36 |
| NG_016441.1:g.5654A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299766.5:c.235A>G MANE Select | ENSP00000299766.3:p.Met79Val | |
| ENST00000299766.4:c.235A>G | ENSP00000299766.3:p.Met79Val | |
| NM_005912.2:c.235A>G | NP_005903.2:p.Met79Val | |
| NM_005912.3:c.235A>G MANE Select | NP_005903.2:p.Met79Val |