Linked Data
ClinVar Variation Id:
2865524
ClinVar RCV Id:
RCV003609146
dbSNP Id:
rs1382114329
gnomAD v2:
14-88412088-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87945744T>A , CM000676.2:g.87945744T>A | GRCh38 |
| NC_000014.8:g.88412088T>A , CM000676.1:g.88412088T>A | GRCh37 |
| NC_000014.7:g.87481841T>A | NCBI36 |
| NG_011853.2:g.52820A>T | |
| NG_011853.3:g.52820A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261304.7:c.1490-11A>T MANE Select | ENSP00000261304.2:n.1490-11A>T | |
| ENST00000261304.6:c.1490-11A>T | ENSP00000261304.2:n.1490-11A>T | |
| ENST00000393568.8:c.1421-11A>T | ENSP00000377198.4:n.1421-11A>T | |
| ENST00000393569.6:c.1412-11A>T | ENSP00000377199.2:n.1412-11A>T | |
| ENST00000544807.6:c.1322-11A>T | ENSP00000437513.2:n.1322-11A>T | |
| ENST00000555000.5:c.857-11A>T | ENSP00000450472.1:n.857-11A>T | |
| ENST00000555179.1:c.206+1984A>T | ||
| ENST00000557316.5:c.*888-11A>T | ENSP00000452314.1:n.*888-11A>T | |
| NM_000153.3:c.1490-11A>T | NP_000144.2:n.1490-11A>T | |
| NM_001201401.1:c.1421-11A>T | NP_001188330.1:n.1421-11A>T | |
| NM_001201402.1:c.1412-11A>T | NP_001188331.1:n.1412-11A>T | |
| XM_011536618.1:c.1322-11A>T | XP_011534920.1:n.1322-11A>T | |
| XM_011536618.2:c.1322-11A>T | XP_011534920.1:n.1322-11A>T | |
| NM_000153.4:c.1490-11A>T MANE Select | NP_000144.2:n.1490-11A>T | |
| NM_001201401.2:c.1421-11A>T | NP_001188330.1:n.1421-11A>T | |
| NM_001201402.2:c.1412-11A>T | NP_001188331.1:n.1412-11A>T |