Linked Data
ClinVar Variation Id:
1942703
ClinVar RCV Id:
RCV002653868
dbSNP Id:
rs752701968
ExAC:
10:79737299 C / T
gnomAD v2:
10-79737299-C-T
gnomAD v4:
10-77977541-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.77977541C>T , CM000672.2:g.77977541C>T | GRCh38 |
| NC_000010.10:g.79737299C>T , CM000672.1:g.79737299C>T | GRCh37 |
| NC_000010.9:g.79407305C>T | NCBI36 |
| NG_029648.1:g.57000G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698724.1:n.1941+2600G>A | ||
| ENST00000698725.1:n.1780G>A | ||
| ENST00000698726.1:n.3340G>A | ||
| ENST00000698727.1:n.3073G>A | ||
| ENST00000698728.1:n.3689G>A | ||
| ENST00000698729.1:n.5137G>A | ||
| ENST00000698730.1:n.5235G>A | ||
| ENST00000698731.1:c.3969G>A | ENSP00000513898.1:p.Pro1323= | |
| ENST00000698732.1:c.*2799G>A | ENSP00000513899.1:n.*2799G>A | |
| ENST00000698733.1:c.*3297G>A | ENSP00000513900.1:n.*3297G>A | |
| ENST00000698734.1:c.*2283G>A | ENSP00000513901.1:n.*2283G>A | |
| ENST00000698735.1:n.4461G>A | ||
| ENST00000698736.1:n.4874G>A | ||
| ENST00000372371.8:c.4110G>A MANE Select | ENSP00000361446.3:p.Pro1370= | |
| ENST00000372371.7:c.4110G>A | ENSP00000361446.3:p.Pro1370= | |
| ENST00000616246.4:c.472+2600G>A | ENSP00000483738.1:n.472+2600G>A | |
| NM_007055.3:c.4110G>A | NP_008986.2:p.Pro1370= | |
| NM_007055.4:c.4110G>A MANE Select | NP_008986.2:p.Pro1370= |