Linked Data
ClinVar Variation Id:
746751
ClinVar RCV Id:
RCV000923381
dbSNP Id:
rs1304011557
gnomAD v2:
X-82763895-C-T
gnomAD v4:
X-83508887-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.83508887C>T , CM000685.2:g.83508887C>T | GRCh38 |
| NC_000023.10:g.82763895C>T , CM000685.1:g.82763895C>T | GRCh37 |
| NC_000023.9:g.82650551C>T | NCBI36 |
| NG_009936.2:g.5627C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644024.2:c.563C>T MANE Select | ENSP00000495996.1:p.Thr188Met | |
| ENST00000373200.4:c.563C>T | ENSP00000362296.2:p.Thr188Met | |
| NM_000307.4:c.563C>T | NP_000298.3:p.Thr188Met | |
| NM_000307.5:c.563C>T MANE Select | NP_000298.3:p.Thr188Met |