Linked Data
dbSNP Id:
rs200593071
ExAC:
16:4849646 C / T
gnomAD v2:
16-4849646-C-T
gnomAD v3:
16-4799645-C-T
gnomAD v4:
16-4799645-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4799645C>T , CM000678.2:g.4799645C>T | GRCh38 |
| NC_000016.9:g.4849646C>T , CM000678.1:g.4849646C>T | GRCh37 |
| NC_000016.8:g.4789647C>T | NCBI36 |
| NG_032174.1:g.8306G>A , LRG_455:g.8306G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322048.12:c.432+41G>A MANE Select | ENSP00000322832.6:n.432+41G>A | |
| ENST00000322048.11:c.432+41G>A | ENSP00000322832.5:n.432+41G>A | |
| ENST00000585653.1:n.564+41G>A | ||
| ENST00000586153.1:c.177+41G>A | ENSP00000464699.1:n.177+41G>A | |
| ENST00000586336.5:n.531+41G>A | ||
| ENST00000586504.5:c.212+41G>A | ||
| ENST00000587377.5:c.423+50G>A | ENSP00000468343.1:n.423+50G>A | |
| ENST00000587711.5:c.118-978G>A | ENSP00000467459.1:n.118-978G>A | |
| ENST00000587843.5:c.*170+41G>A | ENSP00000465970.1:n.*170+41G>A | |
| ENST00000588201.5:c.*289+41G>A | ENSP00000466529.1:n.*289+41G>A | |
| ENST00000589543.5:n.389+41G>A | ||
| ENST00000591292.5:n.1761+41G>A | ||
| ENST00000591392.5:c.360+41G>A | ENSP00000467509.1:n.360+41G>A | |
| ENST00000592019.1:c.76+116G>A | ||
| NM_024589.2:c.432+41G>A , LRG_455t1:c.432+41G>A | NP_078865.1:n.432+41G>A | |
| NR_046480.1:n.756+41G>A | ||
| XM_006720947.2:c.432+41G>A | XP_006721010.1:n.432+41G>A | |
| XM_006720948.2:c.162+41G>A | XP_006721011.1:n.162+41G>A | |
| XM_006720947.4:c.432+41G>A | XP_006721010.1:n.432+41G>A | |
| XM_006720948.4:c.162+41G>A | XP_006721011.1:n.162+41G>A | |
| NM_024589.3:c.432+41G>A MANE Select | NP_078865.1:n.432+41G>A | |
| NR_046480.2:n.439+41G>A |