Linked Data
dbSNP Id:
rs775161253
ExAC:
17:4535109 A / G
gnomAD v2:
17-4535109-A-G
gnomAD v4:
17-4631814-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4631814A>G , CM000679.2:g.4631814A>G | GRCh38 |
| NC_000017.10:g.4535109A>G , CM000679.1:g.4535109A>G | GRCh37 |
| NC_000017.9:g.4481858A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293761.8:c.1810-35T>C MANE Select | ENSP00000293761.3:n.1810-35T>C | |
| ENST00000570836.6:c.1810-35T>C | ENSP00000458832.1:n.1810-35T>C | |
| ENST00000293761.7:c.1810-35T>C | ENSP00000293761.3:n.1810-35T>C | |
| ENST00000570836.5:c.1810-35T>C | ENSP00000458832.1:n.1810-35T>C | |
| ENST00000574640.1:c.1693-35T>C | ENSP00000460483.1:n.1693-35T>C | |
| NM_001140.3:c.1810-35T>C | NP_001131.3:n.1810-35T>C | |
| NM_001140.4:c.1810-35T>C | NP_001131.3:n.1810-35T>C | |
| NM_001140.5:c.1810-35T>C MANE Select | NP_001131.3:n.1810-35T>C |