Linked Data
ClinVar Variation Id:
2172937
ClinVar RCV Id:
RCV002574476
dbSNP Id:
rs777742739
ExAC:
10:79759772 C / T
gnomAD v2:
10-79759772-C-T
gnomAD v3:
10-78000014-C-T
gnomAD v4:
10-78000014-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.78000014C>T , CM000672.2:g.78000014C>T | GRCh38 |
| NC_000010.10:g.79759772C>T , CM000672.1:g.79759772C>T | GRCh37 |
| NC_000010.9:g.79429778C>T | NCBI36 |
| NG_029648.1:g.34527G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698727.1:n.1643G>A | ||
| ENST00000698728.1:n.2162G>A | ||
| ENST00000698729.1:n.3708G>A | ||
| ENST00000698730.1:n.3708G>A | ||
| ENST00000698731.1:c.2442G>A | ENSP00000513898.1:p.Thr814= | |
| ENST00000698732.1:c.*1444G>A | ENSP00000513899.1:n.*1444G>A | |
| ENST00000698733.1:c.*1770G>A | ENSP00000513900.1:n.*1770G>A | |
| ENST00000698734.1:c.2583G>A | ENSP00000513901.1:p.Thr861= | |
| ENST00000698735.1:n.2698G>A | ||
| ENST00000698736.1:n.2698G>A | ||
| ENST00000698737.1:n.2698G>A | ||
| ENST00000698738.1:n.2698G>A | ||
| ENST00000698739.1:n.2698G>A | ||
| ENST00000372371.8:c.2583G>A MANE Select | ENSP00000361446.3:p.Thr861= | |
| ENST00000372371.7:c.2583G>A | ENSP00000361446.3:p.Thr861= | |
| ENST00000472014.5:n.469+4702G>A | ||
| NM_007055.3:c.2583G>A | NP_008986.2:p.Thr861= | |
| NM_007055.4:c.2583G>A MANE Select | NP_008986.2:p.Thr861= |