Linked Data
dbSNP Id:
rs756523259
ExAC:
17:42930613 T / G
gnomAD v2:
17-42930613-T-G
MyVariant Identifiers:
chr17:g.42930613T>G (hg19)
chr17:g.42930613_42930614delinsGG (hg19)
chr17:g.44853245T>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44853245T>G , CM000679.2:g.44853245T>G | GRCh38 |
| NC_000017.10:g.42930613T>G , CM000679.1:g.42930613T>G | GRCh37 |
| NC_000017.9:g.40286139T>G | NCBI36 |
| NG_032674.1:g.51381A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426333.7:c.2561+51A>C MANE Select | ENSP00000392094.1:n.2561+51A>C | |
| ENST00000402521.7:c.2456+51A>C | ENSP00000385873.2:n.2456+51A>C | |
| ENST00000426333.6:c.2561+51A>C | ENSP00000392094.1:n.2561+51A>C | |
| ENST00000586276.5:n.2856+51A>C | ||
| ENST00000589769.1:c.314+272A>C | ||
| ENST00000590124.5:c.468+272A>C | ENSP00000467249.1:n.468+272A>C | |
| ENST00000590367.5:n.2922+51A>C | ||
| ENST00000590977.5:n.1707+272A>C | ||
| ENST00000591382.5:c.2561+51A>C | ENSP00000467805.1:n.2561+51A>C | |
| ENST00000592576.5:c.2531+51A>C | ENSP00000465058.1:n.2531+51A>C | |
| NM_001142605.1:c.2456+51A>C | NP_001136077.1:n.2456+51A>C | |
| NM_001258353.1:c.2561+51A>C | NP_001245282.1:n.2561+51A>C | |
| NM_001258354.1:c.2531+51A>C | NP_001245283.1:n.2531+51A>C | |
| NM_004247.3:c.2561+51A>C | NP_004238.3:n.2561+51A>C | |
| XR_934602.1:n.2551+272A>C | ||
| XR_934602.3:n.2547+272A>C | ||
| NM_004247.4:c.2561+51A>C MANE Select | NP_004238.3:n.2561+51A>C | |
| NM_001142605.2:c.2456+51A>C | NP_001136077.1:n.2456+51A>C | |
| NM_001258353.2:c.2561+51A>C | NP_001245282.1:n.2561+51A>C | |
| NM_001258354.2:c.2531+51A>C | NP_001245283.1:n.2531+51A>C |