Linked Data
ClinVar Variation Id:
1626933
ClinVar RCV Id:
RCV002120665
dbSNP Id:
rs377688304
ExAC:
16:4847923 G / A
gnomAD v2:
16-4847923-G-A
gnomAD v3:
16-4797922-G-A
gnomAD v4:
16-4797922-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4797922G>A , CM000678.2:g.4797922G>A | GRCh38 |
| NC_000016.9:g.4847923G>A , CM000678.1:g.4847923G>A | GRCh37 |
| NC_000016.8:g.4787924G>A | NCBI36 |
| NG_032174.1:g.10029C>T , LRG_455:g.10029C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322048.12:c.695+16C>T MANE Select | ENSP00000322832.6:n.695+16C>T | |
| ENST00000322048.11:c.695+16C>T | ENSP00000322832.5:n.695+16C>T | |
| ENST00000586153.1:c.341+16C>T | ENSP00000464699.1:n.341+16C>T | |
| ENST00000586336.5:n.794+16C>T | ||
| ENST00000586504.5:c.426-82C>T | ||
| ENST00000587377.5:c.*15+16C>T | ENSP00000468343.1:n.*15+16C>T | |
| ENST00000587711.5:c.380+16C>T | ENSP00000467459.1:n.380+16C>T | |
| ENST00000587843.5:c.*433+16C>T | ENSP00000465970.1:n.*433+16C>T | |
| ENST00000588201.5:c.*686+16C>T | ENSP00000466529.1:n.*686+16C>T | |
| ENST00000589543.5:n.652+16C>T | ||
| ENST00000591292.5:n.2024+16C>T | ||
| ENST00000591392.5:c.623+16C>T | ENSP00000467509.1:n.623+16C>T | |
| ENST00000592019.1:c.77-107C>T | ||
| NM_024589.2:c.695+16C>T , LRG_455t1:c.695+16C>T | NP_078865.1:n.695+16C>T | |
| NR_046480.1:n.1019+16C>T | ||
| XM_006720947.2:c.695+16C>T | XP_006721010.1:n.695+16C>T | |
| XM_006720948.2:c.425+16C>T | XP_006721011.1:n.425+16C>T | |
| XM_006720947.4:c.695+16C>T | XP_006721010.1:n.695+16C>T | |
| XM_006720948.4:c.425+16C>T | XP_006721011.1:n.425+16C>T | |
| NM_024589.3:c.695+16C>T MANE Select | NP_078865.1:n.695+16C>T | |
| NR_046480.2:n.702+16C>T |