Linked Data
ClinVar Variation Id:
1099407
ClinVar RCV Id:
RCV001421719
dbSNP Id:
rs1885131050
gnomAD v4:
14-87947750-G-A
MyVariant Identifiers:
chr14:g.88414094G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87947750G>A , CM000676.2:g.87947750G>A | GRCh38 |
| NC_000014.8:g.88414094G>A , CM000676.1:g.88414094G>A | GRCh37 |
| NC_000014.7:g.87483847G>A | NCBI36 |
| NG_011853.2:g.50814C>T | |
| NG_011853.3:g.50814C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261304.7:c.1467C>T MANE Select | ENSP00000261304.2:p.Thr489= | |
| ENST00000261304.6:c.1467C>T | ENSP00000261304.2:p.Thr489= | |
| ENST00000393568.8:c.1398C>T | ENSP00000377198.4:p.Thr466= | |
| ENST00000393569.6:c.1389C>T | ENSP00000377199.2:p.Thr463= | |
| ENST00000544807.6:c.1299C>T | ENSP00000437513.2:p.Thr433= | |
| ENST00000555000.5:c.834C>T | ENSP00000450472.1:p.Thr278= | |
| ENST00000555179.1:c.184C>T | ||
| ENST00000557316.5:c.*865C>T | ENSP00000452314.1:n.*865C>T | |
| NM_000153.3:c.1467C>T | NP_000144.2:p.Thr489= | |
| NM_001201401.1:c.1398C>T | NP_001188330.1:p.Thr466= | |
| NM_001201402.1:c.1389C>T | NP_001188331.1:p.Thr463= | |
| XM_011536618.1:c.1299C>T | XP_011534920.1:p.Thr433= | |
| XM_011536618.2:c.1299C>T | XP_011534920.1:p.Thr433= | |
| NM_000153.4:c.1467C>T MANE Select | NP_000144.2:p.Thr489= | |
| NM_001201401.2:c.1398C>T | NP_001188330.1:p.Thr466= | |
| NM_001201402.2:c.1389C>T | NP_001188331.1:p.Thr463= |