Linked Data
ClinVar Variation Id:
1967995
ClinVar RCV Id:
RCV002727176
dbSNP Id:
rs370288051
ExAC:
10:85962895 C / T
gnomAD v2:
10-85962895-C-T
gnomAD v3:
10-84203139-C-T
gnomAD v4:
10-84203139-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.84203139C>T , CM000672.2:g.84203139C>T | GRCh38 |
| NC_000010.10:g.85962895C>T , CM000672.1:g.85962895C>T | GRCh37 |
| NC_000010.9:g.85952875C>T | NCBI36 |
| NG_028034.1:g.13484C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000623527.4:c.783+16C>T MANE Select | ENSP00000485478.1:n.783+16C>T | |
| ENST00000332904.7:c.783+16C>T | ENSP00000331063.3:n.783+16C>T | |
| ENST00000372117.6:c.163+16C>T | ||
| ENST00000623527.3:c.783+16C>T | ENSP00000485478.1:n.783+16C>T | |
| NM_001171971.2:c.783+16C>T | NP_001165442.1:n.783+16C>T | |
| NM_033100.3:c.783+16C>T | NP_149091.1:n.783+16C>T | |
| XM_011540337.1:c.957+16C>T | XP_011538639.1:n.957+16C>T | |
| XM_011540338.1:c.957+16C>T | XP_011538640.1:n.957+16C>T | |
| XM_011540339.1:c.404+16C>T | XP_011538641.1:n.404+16C>T | |
| XM_011540340.1:c.957+16C>T | XP_011538642.1:n.957+16C>T | |
| XM_011540340.3:c.957+16C>T | XP_011538642.1:n.957+16C>T | |
| NM_033100.4:c.783+16C>T MANE Select | NP_149091.1:n.783+16C>T | |
| NM_001171971.3:c.783+16C>T | NP_001165442.1:n.783+16C>T |