Linked Data
ClinVar Variation Id:
1484436
ClinVar RCV Id:
RCV002005792
dbSNP Id:
rs2139951602
gnomAD v4:
14-87945700-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87945700G>A , CM000676.2:g.87945700G>A | GRCh38 |
| NC_000014.8:g.88412044G>A , CM000676.1:g.88412044G>A | GRCh37 |
| NC_000014.7:g.87481797G>A | NCBI36 |
| NG_011853.2:g.52864C>T | |
| NG_011853.3:g.52864C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261304.7:c.1523C>T MANE Select | ENSP00000261304.2:p.Ala508Val | |
| ENST00000261304.6:c.1523C>T | ENSP00000261304.2:p.Ala508Val | |
| ENST00000393568.8:c.1454C>T | ENSP00000377198.4:p.Ala485Val | |
| ENST00000393569.6:c.1445C>T | ENSP00000377199.2:p.Ala482Val | |
| ENST00000544807.6:c.1355C>T | ENSP00000437513.2:p.Ala452Val | |
| ENST00000555000.5:c.890C>T | ENSP00000450472.1:p.Ala297Val | |
| ENST00000555179.1:c.206+2028C>T | ||
| ENST00000557316.5:c.*921C>T | ENSP00000452314.1:n.*921C>T | |
| NM_000153.3:c.1523C>T | NP_000144.2:p.Ala508Val | |
| NM_001201401.1:c.1454C>T | NP_001188330.1:p.Ala485Val | |
| NM_001201402.1:c.1445C>T | NP_001188331.1:p.Ala482Val | |
| XM_011536618.1:c.1355C>T | XP_011534920.1:p.Ala452Val | |
| XM_011536618.2:c.1355C>T | XP_011534920.1:p.Ala452Val | |
| NM_000153.4:c.1523C>T MANE Select | NP_000144.2:p.Ala508Val | |
| NM_001201401.2:c.1454C>T | NP_001188330.1:p.Ala485Val | |
| NM_001201402.2:c.1445C>T | NP_001188331.1:p.Ala482Val |