Linked Data
dbSNP Id:
rs891890321
gnomAD v2:
19-50364636-G-A
gnomAD v3:
19-49861379-G-A
gnomAD v4:
19-49861379-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49861379G>A , CM000681.2:g.49861379G>A | GRCh38 |
| NC_000019.9:g.50364636G>A , CM000681.1:g.50364636G>A | GRCh37 |
| NC_000019.8:g.55056448G>A | NCBI36 |
| NG_027717.1:g.11187C>T | |
| NG_050666.1:g.17536G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322344.8:c.1449-14C>T MANE Select | ENSP00000323511.2:n.1449-14C>T | |
| ENST00000636840.1:c.59+229C>T | ||
| ENST00000640501.1:c.55-18C>T | ||
| ENST00000322344.7:c.1449-14C>T | ENSP00000323511.2:n.1449-14C>T | |
| ENST00000593946.5:c.*1376-14C>T | ENSP00000468896.1:n.*1376-14C>T | |
| ENST00000594661.5:n.1950-14C>T | ||
| ENST00000595081.5:n.352-14C>T | ||
| ENST00000596014.5:c.1449-14C>T | ENSP00000472300.1:n.1449-14C>T | |
| ENST00000597965.2:c.225C>T | ENSP00000471097.2:n.225C>T | |
| ENST00000599454.5:n.369-14C>T | ||
| ENST00000600573.5:c.1356-14C>T | ENSP00000469826.1:n.1356-14C>T | |
| ENST00000600910.5:c.1339-14C>T | ENSP00000473137.1:n.1339-14C>T | |
| ENST00000601816.3:n.521-14C>T | ||
| ENST00000625216.2:c.530-14C>T | ENSP00000486898.1:n.530-14C>T | |
| ENST00000627232.2:c.1369-14C>T | ENSP00000486037.1:n.1369-14C>T | |
| ENST00000631020.2:c.1341-14C>T | ENSP00000486707.1:n.1341-14C>T | |
| NM_007254.3:c.1449-14C>T | NP_009185.2:n.1449-14C>T | |
| NM_007254.4:c.1449-14C>T MANE Select | NP_009185.2:n.1449-14C>T |