Linked Data
ClinVar Variation Id:
2158488
ClinVar RCV Id:
RCV003093551
dbSNP Id:
rs1293884676
gnomAD v2:
16-4847851-G-A
gnomAD v3:
16-4797850-G-A
gnomAD v4:
16-4797850-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4797850G>A , CM000678.2:g.4797850G>A | GRCh38 |
| NC_000016.9:g.4847851G>A , CM000678.1:g.4847851G>A | GRCh37 |
| NC_000016.8:g.4787852G>A | NCBI36 |
| NG_032174.1:g.10101C>T , LRG_455:g.10101C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322048.12:c.696-10C>T MANE Select | ENSP00000322832.6:n.696-10C>T | |
| ENST00000322048.11:c.696-10C>T | ENSP00000322832.5:n.696-10C>T | |
| ENST00000586153.1:c.342-14C>T | ENSP00000464699.1:n.342-14C>T | |
| ENST00000586336.5:n.795-10C>T | ||
| ENST00000586504.5:c.426-10C>T | ||
| ENST00000587377.5:c.*16-10C>T | ENSP00000468343.1:n.*16-10C>T | |
| ENST00000587711.5:c.381-10C>T | ENSP00000467459.1:n.381-10C>T | |
| ENST00000587843.5:c.*434-10C>T | ENSP00000465970.1:n.*434-10C>T | |
| ENST00000588201.5:c.*687-10C>T | ENSP00000466529.1:n.*687-10C>T | |
| ENST00000589543.5:n.653-10C>T | ||
| ENST00000591292.5:n.2025-10C>T | ||
| ENST00000591392.5:c.624-10C>T | ENSP00000467509.1:n.624-10C>T | |
| ENST00000592019.1:c.77-35C>T | ||
| NM_024589.2:c.696-10C>T , LRG_455t1:c.696-10C>T | NP_078865.1:n.696-10C>T | |
| NR_046480.1:n.1020-10C>T | ||
| XM_006720947.2:c.707C>T | XP_006721010.1:p.Thr236Ile | |
| XM_006720948.2:c.437C>T | XP_006721011.1:p.Thr146Ile | |
| XM_006720947.4:c.707C>T | XP_006721010.1:p.Thr236Ile | |
| XM_006720948.4:c.437C>T | XP_006721011.1:p.Thr146Ile | |
| NM_024589.3:c.696-10C>T MANE Select | NP_078865.1:n.696-10C>T | |
| NR_046480.2:n.703-10C>T |