Linked Data
dbSNP Id:
rs182661793
ExAC:
16:4849667 C / A
gnomAD v2:
16-4849667-C-A
gnomAD v3:
16-4799666-C-A
gnomAD v4:
16-4799666-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4799666C>A , CM000678.2:g.4799666C>A | GRCh38 |
| NC_000016.9:g.4849667C>A , CM000678.1:g.4849667C>A | GRCh37 |
| NC_000016.8:g.4789668C>A | NCBI36 |
| NG_032174.1:g.8285G>T , LRG_455:g.8285G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322048.12:c.432+20G>T MANE Select | ENSP00000322832.6:n.432+20G>T | |
| ENST00000322048.11:c.432+20G>T | ENSP00000322832.5:n.432+20G>T | |
| ENST00000585653.1:n.564+20G>T | ||
| ENST00000586153.1:c.177+20G>T | ENSP00000464699.1:n.177+20G>T | |
| ENST00000586336.5:n.531+20G>T | ||
| ENST00000586504.5:c.212+20G>T | ||
| ENST00000587377.5:c.423+29G>T | ENSP00000468343.1:n.423+29G>T | |
| ENST00000587711.5:c.118-999G>T | ENSP00000467459.1:n.118-999G>T | |
| ENST00000587843.5:c.*170+20G>T | ENSP00000465970.1:n.*170+20G>T | |
| ENST00000588201.5:c.*289+20G>T | ENSP00000466529.1:n.*289+20G>T | |
| ENST00000589543.5:n.389+20G>T | ||
| ENST00000591292.5:n.1761+20G>T | ||
| ENST00000591392.5:c.360+20G>T | ENSP00000467509.1:n.360+20G>T | |
| ENST00000592019.1:c.76+95G>T | ||
| NM_024589.2:c.432+20G>T , LRG_455t1:c.432+20G>T | NP_078865.1:n.432+20G>T | |
| NR_046480.1:n.756+20G>T | ||
| XM_006720947.2:c.432+20G>T | XP_006721010.1:n.432+20G>T | |
| XM_006720948.2:c.162+20G>T | XP_006721011.1:n.162+20G>T | |
| XM_006720947.4:c.432+20G>T | XP_006721010.1:n.432+20G>T | |
| XM_006720948.4:c.162+20G>T | XP_006721011.1:n.162+20G>T | |
| NM_024589.3:c.432+20G>T MANE Select | NP_078865.1:n.432+20G>T | |
| NR_046480.2:n.439+20G>T |