Linked Data
ClinVar Variation Id:
374021
ClinVar RCV Id:
RCV000415277
dbSNP Id:
rs1057518841
gnomAD v4:
9-12695799-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.12695799C>T , CM000671.2:g.12695799C>T | GRCh38 |
| NC_000009.11:g.12695799C>T , CM000671.1:g.12695799C>T | GRCh37 |
| NC_000009.10:g.12685799C>T | NCBI36 |
| NG_011705.1:g.7414C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000388918.10:c.670C>T MANE Select | ENSP00000373570.4:p.His224Tyr | |
| ENST00000381136.2:c.5C>T | ENSP00000370528.2:p.Ala2Val | |
| ENST00000388918.9:c.670C>T | ENSP00000373570.4:p.His224Tyr | |
| NM_000550.2:c.670C>T | NP_000541.1:p.His224Tyr | |
| XR_001746372.2:n.859C>T | ||
| NM_000550.3:c.670C>T MANE Select | NP_000541.1:p.His224Tyr |