Linked Data
ClinVar Variation Id:
1722327
ClinVar RCV Id:
RCV002302441
dbSNP Id:
rs1239984008
MutSpliceDB:
CA1261438742
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74463389G>A , CM000664.2:g.74463389G>A | GRCh38 |
| NC_000002.11:g.74690516G>A , CM000664.1:g.74690516G>A | GRCh37 |
| NC_000002.10:g.74544024G>A | NCBI36 |
| NG_008922.1:g.7022C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690565.1:c.580-3C>T | ENSP00000510501.1:n.580-3C>T | |
| ENST00000691308.1:c.580-3C>T | ENSP00000509583.1:n.580-3C>T | |
| ENST00000448666.7:c.580-3C>T MANE Select | ENSP00000410992.3:n.580-3C>T | |
| ENST00000452063.7:c.262-3C>T | ENSP00000388201.2:n.262-3C>T | |
| ENST00000462443.2:c.-246-3C>T | ENSP00000497265.1:n.-246-3C>T | |
| ENST00000647723.1:c.578-58C>T | ||
| ENST00000647753.1:c.353-3C>T | ENSP00000497318.1:n.353-3C>T | |
| ENST00000647771.1:c.*258-3C>T | ENSP00000496788.1:n.*258-3C>T | |
| ENST00000647915.1:c.35-3C>T | ENSP00000498123.1:n.35-3C>T | |
| ENST00000648768.1:n.660-3C>T | ||
| ENST00000648810.1:c.-191-58C>T | ENSP00000496949.1:n.-191-58C>T | |
| ENST00000649075.1:c.580-3C>T | ENSP00000497836.1:n.580-3C>T | |
| ENST00000649601.1:c.262-3C>T | ENSP00000496796.1:n.262-3C>T | |
| ENST00000649777.1:n.789-3C>T | ||
| ENST00000649854.1:c.268-58C>T | ||
| ENST00000650523.1:c.410-58C>T | ENSP00000497143.1:n.410-58C>T | |
| ENST00000233616.8:c.580-3C>T | ENSP00000233616.4:n.580-3C>T | |
| ENST00000409065.5:c.580-3C>T | ENSP00000386493.1:n.580-3C>T | |
| ENST00000414701.1:c.223-3C>T | ENSP00000396298.1:n.223-3C>T | |
| ENST00000448666.5:c.262-3C>T | ENSP00000410992.1:n.262-3C>T | |
| ENST00000452063.6:c.262-3C>T | ENSP00000388201.2:n.262-3C>T | |
| ENST00000462189.1:n.258C>T | ||
| ENST00000462443.1:n.98-3C>T | ||
| ENST00000489655.1:n.249C>T | ||
| NM_001146158.1:c.262-3C>T | NP_001139630.1:n.262-3C>T | |
| NM_006302.2:c.580-3C>T | NP_006293.2:n.580-3C>T | |
| NM_006302.3:c.580-3C>T MANE Select | NP_006293.2:n.580-3C>T | |
| NM_001146158.2:c.262-3C>T | NP_001139630.1:n.262-3C>T |