Linked Data
ClinVar Variation Id:
1602397
ClinVar RCV Id:
RCV002129972
dbSNP Id:
rs1567597183
gnomAD v3:
16-4797855-A-C
gnomAD v4:
16-4797855-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4797855A>C , CM000678.2:g.4797855A>C | GRCh38 |
| NC_000016.9:g.4847856A>C , CM000678.1:g.4847856A>C | GRCh37 |
| NC_000016.8:g.4787857A>C | NCBI36 |
| NG_032174.1:g.10096T>G , LRG_455:g.10096T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322048.12:c.696-15T>G MANE Select | ENSP00000322832.6:n.696-15T>G | |
| ENST00000322048.11:c.696-15T>G | ENSP00000322832.5:n.696-15T>G | |
| ENST00000586153.1:c.342-19T>G | ENSP00000464699.1:n.342-19T>G | |
| ENST00000586336.5:n.795-15T>G | ||
| ENST00000586504.5:c.426-15T>G | ||
| ENST00000587377.5:c.*16-15T>G | ENSP00000468343.1:n.*16-15T>G | |
| ENST00000587711.5:c.381-15T>G | ENSP00000467459.1:n.381-15T>G | |
| ENST00000587843.5:c.*434-15T>G | ENSP00000465970.1:n.*434-15T>G | |
| ENST00000588201.5:c.*687-15T>G | ENSP00000466529.1:n.*687-15T>G | |
| ENST00000589543.5:n.653-15T>G | ||
| ENST00000591292.5:n.2025-15T>G | ||
| ENST00000591392.5:c.624-15T>G | ENSP00000467509.1:n.624-15T>G | |
| ENST00000592019.1:c.77-40T>G | ||
| NM_024589.2:c.696-15T>G , LRG_455t1:c.696-15T>G | NP_078865.1:n.696-15T>G | |
| NR_046480.1:n.1020-15T>G | ||
| XM_006720947.2:c.702T>G | XP_006721010.1:p.Pro234= | |
| XM_006720948.2:c.432T>G | XP_006721011.1:p.Pro144= | |
| XM_006720947.4:c.702T>G | XP_006721010.1:p.Pro234= | |
| XM_006720948.4:c.432T>G | XP_006721011.1:p.Pro144= | |
| NM_024589.3:c.696-15T>G MANE Select | NP_078865.1:n.696-15T>G | |
| NR_046480.2:n.703-15T>G |