Linked Data
dbSNP Id:
rs746818115
ExAC:
16:4847927 C / T
gnomAD v2:
16-4847927-C-T
gnomAD v3:
16-4797926-C-T
gnomAD v4:
16-4797926-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4797926C>T , CM000678.2:g.4797926C>T | GRCh38 |
| NC_000016.9:g.4847927C>T , CM000678.1:g.4847927C>T | GRCh37 |
| NC_000016.8:g.4787928C>T | NCBI36 |
| NG_032174.1:g.10025G>A , LRG_455:g.10025G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322048.12:c.695+12G>A MANE Select | ENSP00000322832.6:n.695+12G>A | |
| ENST00000322048.11:c.695+12G>A | ENSP00000322832.5:n.695+12G>A | |
| ENST00000586153.1:c.341+12G>A | ENSP00000464699.1:n.341+12G>A | |
| ENST00000586336.5:n.794+12G>A | ||
| ENST00000586504.5:c.426-86G>A | ||
| ENST00000587377.5:c.*15+12G>A | ENSP00000468343.1:n.*15+12G>A | |
| ENST00000587711.5:c.380+12G>A | ENSP00000467459.1:n.380+12G>A | |
| ENST00000587843.5:c.*433+12G>A | ENSP00000465970.1:n.*433+12G>A | |
| ENST00000588201.5:c.*686+12G>A | ENSP00000466529.1:n.*686+12G>A | |
| ENST00000589543.5:n.652+12G>A | ||
| ENST00000591292.5:n.2024+12G>A | ||
| ENST00000591392.5:c.623+12G>A | ENSP00000467509.1:n.623+12G>A | |
| ENST00000592019.1:c.77-111G>A | ||
| NM_024589.2:c.695+12G>A , LRG_455t1:c.695+12G>A | NP_078865.1:n.695+12G>A | |
| NR_046480.1:n.1019+12G>A | ||
| XM_006720947.2:c.695+12G>A | XP_006721010.1:n.695+12G>A | |
| XM_006720948.2:c.425+12G>A | XP_006721011.1:n.425+12G>A | |
| XM_006720947.4:c.695+12G>A | XP_006721010.1:n.695+12G>A | |
| XM_006720948.4:c.425+12G>A | XP_006721011.1:n.425+12G>A | |
| NM_024589.3:c.695+12G>A MANE Select | NP_078865.1:n.695+12G>A | |
| NR_046480.2:n.702+12G>A |