Linked Data
ClinVar Variation Id:
372961
dbSNP Id:
rs1057518102
gnomAD v3:
19-49862043-C-T
gnomAD v4:
19-49862043-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49862043C>T , CM000681.2:g.49862043C>T | GRCh38 |
| NC_000019.9:g.50365300C>T , CM000681.1:g.50365300C>T | GRCh37 |
| NC_000019.8:g.55057112C>T | NCBI36 |
| NG_027717.1:g.10523G>A | |
| NG_050666.1:g.18200C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000322344.8:c.1188+1G>A MANE Select | ENSP00000323511.2:n.1188+1G>A | |
| ENST00000322344.7:c.1188+1G>A | ENSP00000323511.2:n.1188+1G>A | |
| ENST00000593706.3:n.623G>A | ||
| ENST00000593946.5:c.*1115+1G>A | ENSP00000468896.1:n.*1115+1G>A | |
| ENST00000594661.5:n.1689+1G>A | ||
| ENST00000596014.5:c.1188+1G>A | ENSP00000472300.1:n.1188+1G>A | |
| ENST00000599454.5:n.32+1G>A | ||
| ENST00000600573.5:c.1095+1G>A | ENSP00000469826.1:n.1095+1G>A | |
| ENST00000600910.5:c.1188+1G>A | ENSP00000473137.1:n.1188+1G>A | |
| ENST00000601816.3:n.87+1G>A | ||
| ENST00000625216.2:c.269+1G>A | ENSP00000486898.1:n.269+1G>A | |
| ENST00000627232.2:c.1108+1G>A | ENSP00000486037.1:n.1108+1G>A | |
| ENST00000631020.2:c.1080+1G>A | ENSP00000486707.1:n.1080+1G>A | |
| NM_007254.3:c.1188+1G>A | NP_009185.2:n.1188+1G>A | |
| NM_007254.4:c.1188+1G>A MANE Select | NP_009185.2:n.1188+1G>A |