Linked Data
ClinVar Variation Id:
1328028
ClinVar RCV Id:
RCV001794977
dbSNP Id:
rs895704914
gnomAD v4:
18-60372110-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.60372110G>T , CM000680.2:g.60372110G>T | GRCh38 |
| NC_000018.9:g.58039343G>T , CM000680.1:g.58039343G>T | GRCh37 |
| NC_000018.8:g.56190323G>T | NCBI36 |
| NG_016441.1:g.5659C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299766.5:c.240C>A MANE Select | ENSP00000299766.3:p.Tyr80Ter | |
| ENST00000299766.4:c.240C>A | ENSP00000299766.3:p.Tyr80Ter | |
| NM_005912.2:c.240C>A | NP_005903.2:p.Tyr80Ter | |
| NM_005912.3:c.240C>A MANE Select | NP_005903.2:p.Tyr80Ter |