Linked Data
ClinVar Variation Id:
1401560
ClinVar RCV Id:
RCV001912938
dbSNP Id:
rs199585001
ExAC:
7:65554253 C / T
gnomAD v2:
7-65554253-C-T
gnomAD v3:
7-66089266-C-T
gnomAD v4:
7-66089266-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66089266C>T , CM000669.2:g.66089266C>T | GRCh38 |
| NC_000007.13:g.65554253C>T , CM000669.1:g.65554253C>T | GRCh37 |
| NC_000007.12:g.65191688C>T | NCBI36 |
| NG_009288.1:g.18478C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304874.14:c.919-10C>T MANE Select | ENSP00000307188.9:n.919-10C>T | |
| ENST00000362000.10:c.724-10C>T | ENSP00000354710.6:n.724-10C>T | |
| ENST00000380839.9:c.841-10C>T | ENSP00000370219.4:n.841-10C>T | |
| ENST00000395331.4:c.918+91C>T | ENSP00000378740.3:n.918+91C>T | |
| ENST00000395332.8:c.919-10C>T | ENSP00000378741.3:n.919-10C>T | |
| ENST00000488343.2:c.88-10C>T | ENSP00000500864.1:n.88-10C>T | |
| ENST00000671817.1:c.841-10C>T | ENSP00000500462.1:n.841-10C>T | |
| ENST00000672498.1:c.*218-10C>T | ENSP00000500227.1:n.*218-10C>T | |
| ENST00000672586.1:n.1678-10C>T | ||
| ENST00000672676.1:n.1943-10C>T | ||
| ENST00000673149.1:n.731-10C>T | ||
| ENST00000673350.1:n.3036-10C>T | ||
| ENST00000673518.1:c.841-10C>T | ENSP00000499889.1:n.841-10C>T | |
| ENST00000304874.13:c.919-10C>T | ENSP00000307188.9:n.919-10C>T | |
| ENST00000380839.8:c.841-10C>T | ENSP00000370219.4:n.841-10C>T | |
| ENST00000395331.3:c.918+91C>T | ENSP00000378740.3:n.918+91C>T | |
| ENST00000395332.7:c.919-10C>T | ENSP00000378741.3:n.919-10C>T | |
| ENST00000450043.2:c.232-10C>T | ENSP00000396527.2:n.232-10C>T | |
| ENST00000464970.1:n.28C>T | ||
| ENST00000488343.1:n.88-10C>T | ||
| ENST00000493708.5:n.390C>T | ||
| NM_000048.3:c.919-10C>T | NP_000039.2:n.919-10C>T | |
| NM_001024943.1:c.919-10C>T | NP_001020114.1:n.919-10C>T | |
| NM_001024944.1:c.918+91C>T | NP_001020115.1:n.918+91C>T | |
| NM_001024946.1:c.841-10C>T | NP_001020117.1:n.841-10C>T | |
| NM_000048.4:c.919-10C>T MANE Select | NP_000039.2:n.919-10C>T | |
| NM_001024943.2:c.919-10C>T | NP_001020114.1:n.919-10C>T | |
| NM_001024944.2:c.918+91C>T | NP_001020115.1:n.918+91C>T | |
| NM_001024946.2:c.841-10C>T | NP_001020117.1:n.841-10C>T |