Linked Data
ClinVar Variation Id:
2769735
ClinVar RCV Id:
RCV003529869
dbSNP Id:
rs977796968
gnomAD v4:
16-4797925-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4797925C>T , CM000678.2:g.4797925C>T | GRCh38 |
| NC_000016.9:g.4847926C>T , CM000678.1:g.4847926C>T | GRCh37 |
| NC_000016.8:g.4787927C>T | NCBI36 |
| NG_032174.1:g.10026G>A , LRG_455:g.10026G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322048.12:c.695+13G>A MANE Select | ENSP00000322832.6:n.695+13G>A | |
| ENST00000322048.11:c.695+13G>A | ENSP00000322832.5:n.695+13G>A | |
| ENST00000586153.1:c.341+13G>A | ENSP00000464699.1:n.341+13G>A | |
| ENST00000586336.5:n.794+13G>A | ||
| ENST00000586504.5:c.426-85G>A | ||
| ENST00000587377.5:c.*15+13G>A | ENSP00000468343.1:n.*15+13G>A | |
| ENST00000587711.5:c.380+13G>A | ENSP00000467459.1:n.380+13G>A | |
| ENST00000587843.5:c.*433+13G>A | ENSP00000465970.1:n.*433+13G>A | |
| ENST00000588201.5:c.*686+13G>A | ENSP00000466529.1:n.*686+13G>A | |
| ENST00000589543.5:n.652+13G>A | ||
| ENST00000591292.5:n.2024+13G>A | ||
| ENST00000591392.5:c.623+13G>A | ENSP00000467509.1:n.623+13G>A | |
| ENST00000592019.1:c.77-110G>A | ||
| NM_024589.2:c.695+13G>A , LRG_455t1:c.695+13G>A | NP_078865.1:n.695+13G>A | |
| NR_046480.1:n.1019+13G>A | ||
| XM_006720947.2:c.695+13G>A | XP_006721010.1:n.695+13G>A | |
| XM_006720948.2:c.425+13G>A | XP_006721011.1:n.425+13G>A | |
| XM_006720947.4:c.695+13G>A | XP_006721010.1:n.695+13G>A | |
| XM_006720948.4:c.425+13G>A | XP_006721011.1:n.425+13G>A | |
| NM_024589.3:c.695+13G>A MANE Select | NP_078865.1:n.695+13G>A | |
| NR_046480.2:n.702+13G>A |