Linked Data
ClinVar Variation Id:
1339317
ClinVar RCV Id:
RCV001823840
dbSNP Id:
rs1250816750
gnomAD v2:
18-58038736-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.60371503G>A , CM000680.2:g.60371503G>A | GRCh38 |
| NC_000018.9:g.58038736G>A , CM000680.1:g.58038736G>A | GRCh37 |
| NC_000018.8:g.56189716G>A | NCBI36 |
| NG_016441.1:g.6266C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299766.5:c.847C>T MANE Select | ENSP00000299766.3:p.His283Tyr | |
| ENST00000299766.4:c.847C>T | ENSP00000299766.3:p.His283Tyr | |
| NM_005912.2:c.847C>T | NP_005903.2:p.His283Tyr | |
| NM_005912.3:c.847C>T MANE Select | NP_005903.2:p.His283Tyr |