Linked Data
ClinVar Variation Id:
1233351
ClinVar RCV Id:
RCV001617476
dbSNP Id:
rs2672582
gnomAD v2:
10-124266500-C-T
gnomAD v3:
10-122506984-C-T
gnomAD v4:
10-122506984-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122506984C>T , CM000672.2:g.122506984C>T | GRCh38 |
| NC_000010.10:g.124266500C>T , CM000672.1:g.124266500C>T | GRCh37 |
| NC_000010.9:g.124256490C>T | NCBI36 |
| NG_011554.1:g.50460C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.972+99C>T MANE Select | ENSP00000357980.3:n.972+99C>T | |
| ENST00000648167.1:c.654+99C>T | ENSP00000498033.1:n.654+99C>T | |
| ENST00000368984.7:c.972+99C>T | ENSP00000357980.3:n.972+99C>T | |
| ENST00000420892.1:c.195+99C>T | ENSP00000412676.1:n.195+99C>T | |
| NM_002775.4:c.972+99C>T | NP_002766.1:n.972+99C>T | |
| NM_002775.5:c.972+99C>T MANE Select | NP_002766.1:n.972+99C>T |